{"nextCursorMark":92.722662007,"cursorMark":0.0,"articles":[{"source":"MED","extId":"31701662","pmcid":"PMC6978257","annotations":[{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"KIRREL3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000149571"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-f2180b83a2a3037771710f70eb4205d2","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SMC1A","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000072501"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-e048bc358d642fc1a1bd1124738a5181","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"ADNP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000101126"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-14858a94d19374676737ba52943ec8e6","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"CHD7","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000171316"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-e97ea0df6b012f9cf9fca130afb698c7","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"FOXP2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000128573"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-fd8c005ed465408d10d518b8d35fdefa","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"HOXA1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105991"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-85f45ee6c7161206dcaa6022c8769f33","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"FOXG1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000176165"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-c174aae0aa01dea7a6a21d844ab64b79","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"TMLHE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000185973"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-6a0e91ede60b4277496d5207b1270b40","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"MECP2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000169057"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-f054e6e73e1170ee8686bd4d275a8697","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"FOXP1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000114861"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-775956a0e182c6da0d68e59f6523b024","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"ZEB2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000169554"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-5478b63cb6229797c3ab545beb844d4b","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"MEF2C","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081189"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-3a4ad8c5a89ad654715e0c115f3052cf","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"FOXG1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000176165"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-37e7e4f8d413a7165b81e0842f12f3ae","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"CREBBP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000005339"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-7743a2b66c12780bb4269edf64e358f8","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"STXBP1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136854"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-83c2d9e8e27fd478b026e0b8f7646a34","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"GABRB3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000166206"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-f345e3ffd85168547de7b3344c03a840","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"TMLHE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000185973"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-fe1b55abae21fb040fb311650468a967","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"UBE3A","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000114062"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-c076605e4d2a74a63ba6c88d1a936103","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"PQBP1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102103"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-bebd6e728ae092f9d861c36d7fa1f37b","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"BRAF","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000157764"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-0a40c64000589a613ef0fad4c80ade76","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"MBD5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000204406"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-b2d44bfd837ac0dd34fd8c5edbfb8eb7","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"RAD21","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000164754"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-a716080e44a187915d1ffdce7ed0dcc3","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"PTCHD1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000165186"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-597e5b71c09b321b7f6112cfbaf9726d","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SYNE1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000131018"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-66396bb4f2cfb191dbb3b4023f984ac3","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"HDAC8","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000147099"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-00cad9ec2bcac0b3b7ebe2f733bb9f33","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"FGD1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102302"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-01878f95e98c289f31b322840df7f098","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SHANK3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000251322"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-5e4dcf21a5b050628a1e69e8592163be","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"DYRK1A","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000157540"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-5f75f06a4a43382bb2ec2de62d1ea8e5","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"MEF2C","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081189"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-64f1aed8bf4e915e84a218f0605c159b","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SHANK3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000251322"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-e2b57336b96a8afcb83da52784bf8278","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"KIRREL3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000149571"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-97ec57d2761a3750a19efe07a70cee45","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"RAB39B","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000155961"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-cecbeb0ed5461e7f8789247e3cc05bc7","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"PTCHD1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000165186"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-82ea8056062fbe2d9a31d328efda45d9","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SYNE1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000131018"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-7249b62444a5dabd3d5becfe4b1868da","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"LAMC3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000050555"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-28edb15ca8e848034c8a7ed9b15de2e4","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"PHF6","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000156531"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-eff70522312ed2aff5f67d68def9a631","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"DHCR7","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000172893"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-63f84af0bc5f709575edc04cf8544cb5","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"ZEB2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000169554"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-2fa92b1ec3b8bb2c062f377e50e8d9f7","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"MED12","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000184634"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-04b36152595f62bce78eafe156761226","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"LAMC3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000050555"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-b7347a5adab5ee947b5131f59c90edc7","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"PTEN","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000171862"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-e499b13642691b58bdb59b020fa1f2c1","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"RAD21","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000164754"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-ed15496b3a69f1f91bd2e5a2a976edc3","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"FMR1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102081"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-3644abe320cbb105fae797fc4b4675b6","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"VPS13B","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000132549"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-f1df4d79f045a75ef178b9b2fad6f44c","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"CTNNB1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000168036"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-c80d5d4d2fefd4a13d44ca2aace33044","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"PTPN11","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000179295"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-b4b912593ccfcb4edaf7401f95ca267e","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"NLGN4X","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000146938"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-dabab962e8be41bc5da6c371effd56f1","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"NIPBL","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000164190"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-4f56f170bf51c59204cd6141ba9adaa8","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"ATRX","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000085224"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-7eeeefb838a76901723fcf7b17410e92","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SMC3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000108055"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-ba95e91dc087c118e063b8145bf3da57","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"EHMT1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000181090"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-08f0f246c25f8ad71f7e41975a707b20","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SLC2A1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000117394"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-efd523de9a47c0398bfb09e6160e1eb3","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"NLGN3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000196338"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-254b908d042d57e55ac77156a5e00209","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"CHD8","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000100888"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-42e747635d9f9aa9e484ab73fbc2ccd3","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SMC1A","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000072501"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-e1558e584d6afb07cdee7f0583e6b3c4","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SMC3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000108055"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-a360dc6ee2e7eb8bf5e9cccb66c3f8ca","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"ARID1B","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000049618"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-8388501fd623ab4df2d1b9a7de2cb306","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"KDM5C","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000126012"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-c18b2ac709044ea319c7214d1e014eea","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"NHS","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000188158"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-795a3a64987a26470c1898dd0abc430a","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"ALDH5A1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000112294"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-eecee54f2b3647d4ac6ab7b76025df89","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"PAFAH1B1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000007168"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-063470edfe0d557e1a47f54747a158bf","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"TBL1XR1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000177565"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-c181e494fb5211b4f78fdc0b8b000a61","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"ALDH5A1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000112294"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-fc93c642f2314d6ea47b4e4344f9fc87","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SETBP1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000152217"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-8c1e83db604618c8af4d1c5c9a7eb67f","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SLC2A1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000117394"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-a30ebc08bdcdbda133547af858e1cb89","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SCN2A","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136531"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-235ac48fc2219903e3b5bb327989fdd5","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SCN1A","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000144285"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-4b0d17e790d07c3a392072dd7abfc7b7","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"NLGN4X","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000146938"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-35443104a06c1d0c3a95db9faebf78c7","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"VPS13B","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000132549"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-379319e1990eb6bee8e33dddd70cfc4b","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"NIPBL","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000164190"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-5514a0221f83b85ef27c64bbcb481b47","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"MECP2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000169057"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-db1df5934eb1cfd10b7c5aba2bad4518","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"BCKDK","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000103507"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-777adc4282a764236f225d8dfe45d24b","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"MED12","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000184634"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-06bd01a531c71ae7619297812be93b73","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SCN2A","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136531"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-6579943b5ea6ccebc3772e1e4dec79bc","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"PNKP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000039650"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-ab87fb88f6ef91b035ddfe25e0521c4f","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"ATRX","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000085224"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-e5646b7edb5884fec0641895642de7de","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"TBR1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136535"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-e80d94725bbd969d8950003959349122","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"TMEM231","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000205084"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-b22b8c8aef341a90a3c6212c11b3bc33","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"NHS","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000188158"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-21e29762a2021c8f04802a889e639142","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"AP1S2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000182287"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-35111dfbe23fb9796318fbe71c00d4dd","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"TBR1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136535"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-5ca5258640e2a8d0f23d2c87872526bf","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"PAFAH1B1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000007168"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-8e4bb1aae1b2697942e1ea8116e1e0a1","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"CTNNB1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000168036"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-db293c4f65f2256df81f9d8b3db47eb5","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"FMR1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102081"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-947baddaf80106dd02de5f0980c9834b","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"GRIN2B","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000273079"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-429ce43c14a516968549821b5d759644","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"BCKDK","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000103507"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-a0a9714a9e50ba8221e1114f2cdc62a6","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"CHD7","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000171316"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-d308a17d34df84ad6042a487ed029a14","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"NRXN1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000179915"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-8e502732b82bc85c4158badc51bc4e3e","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"TBL1XR1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000177565"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-3c1de8fe2b5fa9bde3a3ec316f400332","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"CREBBP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000005339"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-84ecbd869a6689e86341f114878ea164","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"OPHN1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000079482"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-dda020961af50ec4a6d89b868eef0a83","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"AMT","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000145020"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-96e576200441dd1f4262c27b9b965beb","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"L1CAM","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000198910"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-1c8b9cdd6c94808dccf46aaf9a18689f","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"TSC2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000103197"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-78e9af926f3446456902072a8c6cc730","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"UBE3A","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000114062"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-ebfb2193e8f2b040a6e3fca16154f7ed","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"CDKL5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000008086"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-38fafc56b95629eb1e6908b197bb5835","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"PNKP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000039650"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-c02eaf872ce931287713be43963279b8","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"PTPN11","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000179295"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-4a14cf3dc08953379f0c164993ee5e9c","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"CNTNAP2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000174469"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-bbba50e1ba22c6a2c9f404b77b727494","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"TUBA1A","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000167552"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-8c567d5142e887cc53a6acaaf0e2ba01","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SCN1A","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000144285"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-98f61ecc893e72d0d6d7c79ab8c11304","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"BRAF","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000157764"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-bfb043df73a8a8bb4027f423670c4be4","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"RELN","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-c23f4bfc127086a73413888bacf0c9fb","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"DYRK1A","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000157540"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-5ccae4f2bf6b3560afd0a735cfb25888","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SETBP1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000152217"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-29979a670893ccac8e81323a4e555c49","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"STXBP1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136854"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-0f74d2a63579179f32abc96bd91659d1","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"AP1S2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000182287"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-1449e4716e4061ff6c36e2b8e32bfca5","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"TSC2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000103197"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-aa17f93c49505a54a5c4364cdd33b910","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"PHF6","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000156531"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-f087b8bcb7000923f55ee21de50433ab","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"NLGN3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000196338"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-c1f4c4c5c05f8dfad5162d745c5efccc","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"DHCR7","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000172893"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-c4316a5e1e24c817e724048477b48cde","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"RELN","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-3ca751ee806c139c6820851135b9e7d5","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"NSD1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000165671"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-4124e2a69d1cd27652aacab53a08b3d5","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"FGD1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102302"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-df733fc951edf2f46c333438b4fb790e","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"FOXP2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000128573"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-e604ec3feef735a291703809d9bd21e6","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"UBE3C","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000009335"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-4ca57ef2283111bcb362c9a5b7cb026f","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"FOXP1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000114861"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-52ff97840e8a87ab865755e5c1bf0a39","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SETD2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000181555"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-ce44a29db20b8339667abc8d98c98857","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"ARID1B","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000049618"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-4c66e195a3db48f233f4c773f874e7d1","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"GRIN2B","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000273079"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-58fc0be4b323ac13cfa91f917a887e48","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"GABRB3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000166206"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-ca3aee2fe66d0032849f6289ff18ec23","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"CACNA1C","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000151067"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-2a3b3d3ec288cdb740c57ed75a880299","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"MBD5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000204406"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-43d27954cda5301a40ebe0e7544cc500","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"L1CAM","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000198910"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-c5fb66185eb678ed28d96c9283bc93f6","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Significantly, reduced levels of leucine and isoleucine and increased levels of histidine were detected in the brains of Slc7a5−/− mice, having an autism‐related phenotype, that was rescued by intracerebroventricular injection of BCAAs.","tags":[{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"},{"name":"leucine","uri":"https://www.ebi.ac.uk/chembl/compound_report_card/CHEMBL291962"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-6173e40510b446e78666c07237eeca9a","type":"Disease Drug Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"TMEM231","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000205084"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-4dd172f031c9d5a3630a090d2879c1f8","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"EHMT1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000181090"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-51b9e86537de047e4eb72a768648b391","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"KDM5C","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000126012"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-8549cb2926a2e91c7110be538e59f249","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"OPHN1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000079482"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-7d9475f27de5457a6fbf98ca9465f87f","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"AMT","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000145020"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-a615ae72be15ca137a011ba90a9c445b","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"TUBA1A","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000167552"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-5fc044283a0b01059aee9fec18c06a66","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"ADNP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000101126"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-4b0f312aff4ca054a53d28f4d9289cb0","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"UBE3C","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000009335"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-aa4273709ec9a9ccdb729a905fe18e12","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"CHD8","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000100888"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-ac1f8e6c4fd8cd288bb3d418231dd534","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"NRXN1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000179915"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-ba9f34aae0de3f9eda2e57be39b4f9c6","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"PTEN","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000171862"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-63fa24611e62c8c59b201e8486672318","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"CDKL5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000008086"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-49a7476be327a4a58f73019f42f17acd","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"HOXA1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105991"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-e326d8c2ba1aa99881c0702206522ee7","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"HDAC8","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000147099"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-7d44222fc1930fdf32ed265780f97fd4","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"SETD2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000181555"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-614f1329ded96fa2b7d01b628eff8e11","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"CNTNAP2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000174469"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-cc00ecb9b441bddf2591588dd50b1cc4","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"RAB39B","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000155961"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-adfbf6efe8050fbe1502b215ca66045a","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"PQBP1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102103"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-706bff9b99fdc4207546a9289cbcf639","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"NSD1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000165671"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-87c77b0e2ac8e9710f1b640eaf91987d","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"},{"exact":"Molecular tests excluded abnormalities in plasma amino acid levels, major chromosomal abnormalities, and pathogenic variants in genes associated with ASD: ADNP, ALDH5A1, AMT, AP1S2, ARID1B, ARX, ATRX, BCKDK, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CREBBP, CTNNB1, DHCR7, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, SLC2A1, GRIN2B, HDAC8, HOXA1, HPRT1, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAD21, RAI1, RELN, SCN1A, SCN2A, SETBP1, SETD2, SHANK3, SLC9A6, SMC1A, SMC3, STXBP1, SYNE1, TBL1XR1, TBR1, TCF4, TMEM231, TMLHE, TSC1, TSC2, TUBA1A, UBE3A, UBE3C, VPS13B, ZEB2. The seven syndromal patients were diagnosed with autistic disorder based on evaluation using the ADI‐R and the Autism Diagnostic Observation Schedule (ADOS), according to the DSM IV‐Revised criteria.","tags":[{"name":"CACNA1C","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000151067"},{"name":"Autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC6978257#opentargets-00479ffefa3a4daf31912f9f871509a8","type":"Gene Disease Relationship","section":"Methods (http://purl.org/orb/Methods)","provider":"Open Targets Platform"}],"fullTextIdList":["PMC6978257"]},{"source":"MED","extId":"38994948","pmcid":"PMC11240613","annotations":[{"exact":"Results: We found hyperexpression of TGFB1, TGFB2, IL6 and IFI16 and decreased expression of HAP1, SIRT1, NURR1, RELN, GPX1, EN2, SLC1A2 and SLC1A3 in the astrocytes of patients with autism, along with DNA hypomethylation of TGFB2, IL6, TNFA and EN2 gene promoters and a decrease in HAP1 promoter 5-hydroxymethylation in the astrocytes of patients with autism.","tags":[{"name":"TGFB2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000092969"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-d4354d47180b0a92fc1c880df895e8ce","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Thus, in addition to inflammatory activity, IL6 contributes to NSC growth, and its higher expression may induce the higher growth rate of NSCs in autism observed in our studies.","tags":[{"name":"IL6","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136244"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-9d0e37b0dec14bb64377f33fd3a35a8a","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"From a mechanistic point of view in autism, the activity of TGFB signaling genes is tightly linked to mTOR, whose increased expression affects TSC1 (a partner of HAP1) linked to autism neuropathology [60].","tags":[{"name":"mTOR","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000198793"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-2216168801ecaa3c43c4d5ebb7cd9b3e","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Moreover, the astrocytes of patients with autism exhibited higher expression of TGFB1 and TGFB2 but reduced expression of proliferator genes such as CXCR4 and NURR1 in addition to RELN, EN2, HAP1, SIRT1, and GPX1 vs. controls.","tags":[{"name":"TGFB1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-d16bad6ff62e87ff4e0dbfe73ab8f6b3","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Additionally, SIRT1 and SNCA, with the same levels of expression in astrocytes vs. neurons, and NURR1 (with 2-fold expression in astrocytes vs. neurons), as well as HAP1 exhibited highly significant decreases in expression in the astrocytes of autism, but not at statistically significant levels in neurons or NSC, except for HAP1 which trended a decreased expression in neurons (Table 2).","tags":[{"name":"SIRT1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000096717"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-d9f9cb957814f7e2a6aa9191299149ad","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"In postmortem brain samples, we found DNA hypomethylation of TGFB2 and IFI16 promoter regions, but DNA hypermethylation of HAP1 and SLC1A2 promoters in autism.","tags":[{"name":"IFI16","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000163565"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-7e7f44b338f0ddbf26c70287dd80221b","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Inflammatory and immune dysfunction includes elevated brain-specific antibodies against neuron-axon filament protein (NAFP) and glial fibrillary acidic protein (GFAP) [14], as well as chronic microglial activation that may mediate the dysfunction of glutamatergic excitatory receptors [15], increases in the levels of TGFB1, TNFA, IL-6 and IL-17 and other inflammatory cytokines [16,17,18], and down-regulation of IL-2 in the blood cells of patients with autism [19].","tags":[{"name":"IL-17","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000112115"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-edd22207eb6a15268198fa4509d50005","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"In postmortem brain tissues of five cases with autism and five control subjects, the TGFB1 promoter region was extensively unmethylated (~5–10% methylation) and there was no significant change between cases and controls, but methylation in autism was 22% less than controls.","tags":[{"name":"TGFB1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-7b160be5b14ea0e247472d65ac1137d2","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Inflammatory and immune dysfunction includes elevated brain-specific antibodies against neuron-axon filament protein (NAFP) and glial fibrillary acidic protein (GFAP) [14], as well as chronic microglial activation that may mediate the dysfunction of glutamatergic excitatory receptors [15], increases in the levels of TGFB1, TNFA, IL-6 and IL-17 and other inflammatory cytokines [16,17,18], and down-regulation of IL-2 in the blood cells of patients with autism [19].","tags":[{"name":"glial fibrillary acidic protein","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000131095"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-7bb4c96224b07d50da7c484b1dce9e27","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"There was no significant alteration in SLC1A2 expression in the NSCs of patients with autism vs. controls, suggesting that its expression alteration happens after astrocyte/neuronal differentiation.","tags":[{"name":"SLC1A2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110436"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-9cddd446ae687bff4da5daa216d1a394","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Additionally, the promoter region of EN2 exhibited reduced DNA methylation levels in the astrocytes of patients with autism (Table 3 and Figure 2E), though we found no evidence for 5-hmC alteration in autism vs. controls.","tags":[{"name":"EN2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000164778"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-34fde71db43cc94a2e318abcd0ba62b5","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Inflammatory and immune dysfunction includes elevated brain-specific antibodies against neuron-axon filament protein (NAFP) and glial fibrillary acidic protein (GFAP) [14], as well as chronic microglial activation that may mediate the dysfunction of glutamatergic excitatory receptors [15], increases in the levels of TGFB1, TNFA, IL-6 and IL-17 and other inflammatory cytokines [16,17,18], and down-regulation of IL-2 in the blood cells of patients with autism [19].","tags":[{"name":"IL-6","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136244"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-40cb1ef3a4b8b0f19e66032fe1973807","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"To determine whether altered expression of TGFB genes occurred before or after differentiation, we analyzed TGFB1, B2 and TGFB3 gene expression in the NSCs of patients with autism and control subjects.","tags":[{"name":"TGFB","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-f26610c6281ef064c28fd9fa66175367","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"The SLC1A2 promoter region was also hypermethylated (~300%, Mean ± SEM 1 ± 0.4 and 3.3 ± 0.7 in controls and autism, respectively, p = 0.02) in the brains of patients with autism (Figure 2M), though its overall promoter DNA methylation was trivial (~5% in controls and 15% in autism).","tags":[{"name":"SLC1A2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110436"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-61698bc21befd9e72b8bc25523a879a2","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"While increased expression of this anti-inflammatory gene in pregnant mothers or newborns could be the response of white blood cells to an ongoing inflammatory reaction, its reduced expression in our iPSC-derived neurons or astrocytes may indicate an intrinsic deficit in brain cells, and astrocytes in particular, for IL4 expression in patients with autism, which makes their brain cells vulnerable to inflammatory damages.","tags":[{"name":"IL4","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000113520"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-39c275f64d948ac00716ce713c99aa2a","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Additionally, RELN, with almost no expression in NSCs and 2-fold greater expression levels in neurons vs. astrocytes, exhibited a highly significant 30-fold reduced expression in the astrocytes (but not in neurons) of patients with autism.","tags":[{"name":"RELN","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-f0ba340d95f0e2224c30302fbd98bf8d","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Interestingly, the expression of NTRK2 (a receptor for BDNF), with almost 3-fold greater expression in astrocytes vs. neurons, exhibited a 30-fold decrease in the astrocytes of patients with autism vs. controls (p = 0.01), but not in neurons or NSCs.","tags":[{"name":"NTRK2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000148053"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-ee5c0c08eac088efbdc75943ac229669","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Interestingly, while TNFα, inhibits methionine synthase (MTR) expression in cultured neuronal cells, and MTR expression is very high in the postmortem brains of normal individuals in early developmental periods (but decreases as age increases), in patients with autism not only is its early life peak absent but also a life-long decrease in MTR expression is observed compared to the control subjects [20].","tags":[{"name":"MTR","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000116984"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-b672ce0ba99bbb7fe62527224554d3c8","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"As shown in Figure 2K,L, we also found that IFI16 promoter DNA is hypomethylated (~40%, Mean ± SEM 1.1 ± 0.1 and 0.5 ± 0.1 in controls and autism, respectively, p = 0.003), but HAP1 promoter was hypermethylated in the postmortem brains of these patients (~60%, Mean ± SEM 1 ± 0.11 and 1.6 ± 0.2 in controls and autism, respectively, p = 0.04).","tags":[{"name":"IFI16","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000163565"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-ca15c905a5db84b0e7506eb0ee11cce3","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Considering TGFB2, similar to iPSC-derived astrocytes, the target CpGs of site A exhibited DNA hypomethylation in the postmortem brain samples of patients with autism vs. controls (~50%, Mean ± SEM in controls and autism, 1.16 ± 0.27 and 0.4805 ± 0.1, respectively, p = 0.05, Figure 2J).","tags":[{"name":"TGFB2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000092969"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-c916649eb7b2cc1c690c8293177de028","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"SLC1A3, which is similar to SLC1A2, involved in rapid glutamate removal from the synaptic cleft [28] and had >4-fold higher expression in astrocytes vs. neurons, was also decreased by 90% only in the astrocytes of patients with autism (p = 0.002, Table 2).","tags":[{"name":"SLC1A3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000079215"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-74e03316c9568f36a5df51cb4164f329","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Results: We found hyperexpression of TGFB1, TGFB2, IL6 and IFI16 and decreased expression of HAP1, SIRT1, NURR1, RELN, GPX1, EN2, SLC1A2 and SLC1A3 in the astrocytes of patients with autism, along with DNA hypomethylation of TGFB2, IL6, TNFA and EN2 gene promoters and a decrease in HAP1 promoter 5-hydroxymethylation in the astrocytes of patients with autism.","tags":[{"name":"RELN","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-a45356183ea98aad98933e52122a8c13","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Results: We found hyperexpression of TGFB1, TGFB2, IL6 and IFI16 and decreased expression of HAP1, SIRT1, NURR1, RELN, GPX1, EN2, SLC1A2 and SLC1A3 in the astrocytes of patients with autism, along with DNA hypomethylation of TGFB2, IL6, TNFA and EN2 gene promoters and a decrease in HAP1 promoter 5-hydroxymethylation in the astrocytes of patients with autism.","tags":[{"name":"IFI16","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000163565"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-12aafe1c72ff07ed4f41c9120dffed11","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Results: We found hyperexpression of TGFB1, TGFB2, IL6 and IFI16 and decreased expression of HAP1, SIRT1, NURR1, RELN, GPX1, EN2, SLC1A2 and SLC1A3 in the astrocytes of patients with autism, along with DNA hypomethylation of TGFB2, IL6, TNFA and EN2 gene promoters and a decrease in HAP1 promoter 5-hydroxymethylation in the astrocytes of patients with autism.","tags":[{"name":"TNFA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000232810"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-e7eb4113996ba367e17a5f46e67ebd7e","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"To determine whether altered expression of TGFB genes occurred before or after differentiation, we analyzed TGFB1, B2 and TGFB3 gene expression in the NSCs of patients with autism and control subjects.","tags":[{"name":"TGFB1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-f26610c6281ef064c28fd9fa66175367","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"CXCR4, a gene related to astrocyte survival [37] with 3-fold greater expression in astrocytes compared to neurons, showed decreased expression in the astrocytes (80%, p = 0.006) and to a lesser extent in the neurons (28%, p = 0.1) of patients with autism vs. controls (Table 2).","tags":[{"name":"CXCR4","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000121966"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-8db2d27377d64a0ab748c9903e76c6e1","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"While these studies generally support a link between reduced SLC1A2 activity and autism pathogenesis, the unexpected lack of correlation between the expression of TGFB genes and SLC1A2 in our study suggests that an unrelated epigenetic silencing of SLC1A2 in autism may disrupt the link between TGFB expression and SLC1A2.","tags":[{"name":"SLC1A2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110436"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-72ea98a8ebf9d9fad8754193ed7b76a0","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"IL4, another anti-inflammatory gene with 3-fold higher expression in astrocytes vs. neurons and an overall low level of expression, exhibited 5-fold greater expression in astrocytes of controls vs. patients with autism (i.e., 80% decrease in autism, p = 0.04, Table 2).","tags":[{"name":"IL4","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000113520"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-95954e18af8890069f2086761b1a0354","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Furthermore, TNFA, a major inflammatory gene, showed no expression changes in autism compared to the control subjects.","tags":[{"name":"TNFA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000232810"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-7947eab22fb4219fd6a065e5bdcc762c","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Results: We found hyperexpression of TGFB1, TGFB2, IL6 and IFI16 and decreased expression of HAP1, SIRT1, NURR1, RELN, GPX1, EN2, SLC1A2 and SLC1A3 in the astrocytes of patients with autism, along with DNA hypomethylation of TGFB2, IL6, TNFA and EN2 gene promoters and a decrease in HAP1 promoter 5-hydroxymethylation in the astrocytes of patients with autism.","tags":[{"name":"GPX1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000233276"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-525b2ebcb60c3b58162293a281e73af1","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Research data also indicate decreases in the glutathione/oxidized glutathione ratio and redox antioxidant capacity, and the increased oxidative stress in the brain of patients with autism may have consequences such as chronic inflammation and increases in mitochondrial superoxide production, protein oxidation and DNA damage [12,13].","tags":[{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"},{"name":"glutathione","uri":"https://www.ebi.ac.uk/chembl/compound_report_card/CHEMBL1543"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-3d1f11ec6231efbd64ef72b92c2ffd40","type":"Disease Drug Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"Notably, higher levels of IL6 were also reported in the brain, blood cells, and plasma of patients with autism [48,49,50].","tags":[{"name":"IL6","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136244"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-b8f7ebd625a82ad0240c81ad4b494317","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Interestingly, while TNFα, inhibits methionine synthase (MTR) expression in cultured neuronal cells, and MTR expression is very high in the postmortem brains of normal individuals in early developmental periods (but decreases as age increases), in patients with autism not only is its early life peak absent but also a life-long decrease in MTR expression is observed compared to the control subjects [20].","tags":[{"name":"TNFα","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000232810"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-9649886ec15a7470a3b995ecbe26148a","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"IL4, another anti-inflammatory gene, exhibited deficient expression levels in our study cell lines and an almost 80% decreased expression in the astrocytes of patients with autism vs. controls.","tags":[{"name":"IL4","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000113520"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-35966ede6959a348d1595aed4c45c8f1","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"The TGFB1 promoter region was almost totally unmethylated in iPSC-derived astrocytes in both the control and autism groups.","tags":[{"name":"TGFB1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-5a518f291fc01765588858f7c5c21e22","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"To determine whether altered expression of TGFB genes occurred before or after differentiation, we analyzed TGFB1, B2 and TGFB3 gene expression in the NSCs of patients with autism and control subjects.","tags":[{"name":"TGFB3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000119699"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-b6bb2ed6215154873c06020b33cd5958","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Expression analysis for DCX transcript, a marker of neuronal migration, revealed 80% reduced expression in autism (Figure 5E), while MKI67 expression level was the same in both groups.","tags":[{"name":"DCX","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000077279"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-2ce962db8105a47e03e7fe7cba557fd5","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"While these studies generally support a link between reduced SLC1A2 activity and autism pathogenesis, the unexpected lack of correlation between the expression of TGFB genes and SLC1A2 in our study suggests that an unrelated epigenetic silencing of SLC1A2 in autism may disrupt the link between TGFB expression and SLC1A2.","tags":[{"name":"TGFB","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-3718e7ed94a0a2eb88904c3424702c8b","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Thus, it is likely that the increased expression of TGFB1 in the astrocytes of patients with autism is mediated by DNA hypomethylation of other CpG sites or/and due to different epigenetic mechanisms.","tags":[{"name":"TGFB1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-5b075805351a4b3560069523f20d6e79","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"We also analyzed the expression of TNFRSF1A, a gene tightly linked to other inflammatory genes, and found no evidence for expression changes in NSCs, neurons and astrocytes in autism vs. control subjects (Table 2).","tags":[{"name":"TNFRSF1A","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000067182"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-53b1d2c6961ff8452a0c1635e8fafb0f","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Additionally, MKI67 expression, a marker for cell proliferation, revealed a significantly increased expression in autism (Figure 3B(b4)).","tags":[{"name":"MKI67","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000148773"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-fa4c97428f48ed08bd32989dd09b9e6d","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"This is in line with other studies reporting increased levels of IFI16 in plasma and its hyper-expression in the brain of patients with autism patients [25,26].","tags":[{"name":"IFI16","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000163565"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-be30738ffdbf22f730b0b4f051f19a83","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Nevertheless, a human study reported DNA hypomethylation of TGFB1 in the blood cells of patients with autism [56].","tags":[{"name":"TGFB1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-f2ceeaabb469c71a2bb30c106b610906","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"In addition to proinflammatory genes, there are also reports of reduced expression of several key neuronal genes such as RELN, SLC1A2, GAD1, TSC1 and HAP1 in autism or autism spectrum disorders [27,28,29,30,31], which have not been causally linked to neuro-inflammation in autism.","tags":[{"name":"TSC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000165699"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-012827763cdc47976fc91f65123483ac","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"Additionally, SIRT1 and SNCA, with the same levels of expression in astrocytes vs. neurons, and NURR1 (with 2-fold expression in astrocytes vs. neurons), as well as HAP1 exhibited highly significant decreases in expression in the astrocytes of autism, but not at statistically significant levels in neurons or NSC, except for HAP1 which trended a decreased expression in neurons (Table 2).","tags":[{"name":"SNCA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000145335"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-71cec5053ebd1750d8e50189021bb000","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"SLC1A2, a glucose/glutamate transporter, was among other genes whose expression was greatly reduced in the astrocytes (90%, p = 0.045) but insignificantly in the neurons (50%, p = 0.2) of patients with autism vs. controls.","tags":[{"name":"SLC1A2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110436"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-168e835ba47c5fcada646f3441eb40b6","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Results: We found hyperexpression of TGFB1, TGFB2, IL6 and IFI16 and decreased expression of HAP1, SIRT1, NURR1, RELN, GPX1, EN2, SLC1A2 and SLC1A3 in the astrocytes of patients with autism, along with DNA hypomethylation of TGFB2, IL6, TNFA and EN2 gene promoters and a decrease in HAP1 promoter 5-hydroxymethylation in the astrocytes of patients with autism.","tags":[{"name":"SLC1A3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000079215"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-89d9fa51c6516cf6ab98c4d6eb857e5e","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"As the growth rate of NSCs was greater in patients with autism, we also analyzed the expression of several other genes that support cell proliferation, including TWIST (a transcription factor important in embryonic development), IGF1 (an insulin-like growth factor) and Survivin (an apoptosis inhibitor) in NSCs which exhibited no changes in autism vs. controls.","tags":[{"name":"Survivin","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000089685"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-2ec9d1e862c3427999fd66ade5ff6a78","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Additionally, we found DNA hypomethylation of site A of the TGFB2 promoter region in the postmortem brains of patients with autism and astrocytes of patients with autism associated with its increased expression.","tags":[{"name":"TGFB2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000092969"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-4057f29a34c1a8348dcb36726e563413","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Interestingly, all three of these genes, along with SNCA (alpha synuclein), which mediates inflammatory and immune responses [73], exhibited highly significantly reduced expression in our iPSC-derived astrocytes of patients with autism.","tags":[{"name":"alpha synuclein","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000145335"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-8ddb87c24ce1d28c741e9e28b5725a0b","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Regarding IFI16, an anti-inflammatory gene, we found a highly significantly reduced expression in the NSCs (75%) but a significantly increased expression in the astrocytes (>45%) of patients with autism vs. controls.","tags":[{"name":"gene","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000279284"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-1a297f5499aa3c4fbf284ac327b1a461","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"As the growth rate of NSCs was greater in patients with autism, we also analyzed the expression of several other genes that support cell proliferation, including TWIST (a transcription factor important in embryonic development), IGF1 (an insulin-like growth factor) and Survivin (an apoptosis inhibitor) in NSCs which exhibited no changes in autism vs. controls.","tags":[{"name":"IGF1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000017427"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-34f23ff7d6c7af81426df88ef8b9a535","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"However, after differentiation, IFI16 exhibited significant up-regulation in the astrocytes, whereas IL6 was upregulated in both astrocytes and neurons of patients with autism.","tags":[{"name":"IFI16","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000163565"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-35ad6c9b33f4466a0b1fab17768c0b45","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Additionally, SIRT1 and SNCA, with the same levels of expression in astrocytes vs. neurons, and NURR1 (with 2-fold expression in astrocytes vs. neurons), as well as HAP1 exhibited highly significant decreases in expression in the astrocytes of autism, but not at statistically significant levels in neurons or NSC, except for HAP1 which trended a decreased expression in neurons (Table 2).","tags":[{"name":"NURR1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000153234"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-42c06ea3e3a46d0620c065f677a8de46","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Interestingly, while TNFα, inhibits methionine synthase (MTR) expression in cultured neuronal cells, and MTR expression is very high in the postmortem brains of normal individuals in early developmental periods (but decreases as age increases), in patients with autism not only is its early life peak absent but also a life-long decrease in MTR expression is observed compared to the control subjects [20].","tags":[{"name":"methionine synthase","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000116984"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-b672ce0ba99bbb7fe62527224554d3c8","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"Similarly, IGFBPL1, with almost 2-fold greater expression in astrocytes vs. neurons, was a gene with >30-fold reduced expression in the astrocytes of patients with autism (p = 0.04) but was not significantly different in neurons (Table 2).","tags":[{"name":"IGFBPL1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000137142"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-c8fdb046c5a0676d426429e9872efc5a","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"In addition to proinflammatory genes, there are also reports of reduced expression of several key neuronal genes such as RELN, SLC1A2, GAD1, TSC1 and HAP1 in autism or autism spectrum disorders [27,28,29,30,31], which have not been causally linked to neuro-inflammation in autism.","tags":[{"name":"GAD1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000128683"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-8ecdc5a4f3eb7e2ab2879565b0ee45ef","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"These findings suggest that TGFB-mediated HAP1 gene silencing, possibly via the induction of its promoter DNA methylation in neurons, may play an important functional role in autism pathogenesis, as HAP1 is a partner of TSC1 (tuberous sclerosis 1), a gene linked to autism phenotype [60,61].","tags":[{"name":"tuberous sclerosis 1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000165699"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-c80d3a0ade73e0f6fb7271875ff3c7a7","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Inflammatory and immune dysfunction includes elevated brain-specific antibodies against neuron-axon filament protein (NAFP) and glial fibrillary acidic protein (GFAP) [14], as well as chronic microglial activation that may mediate the dysfunction of glutamatergic excitatory receptors [15], increases in the levels of TGFB1, TNFA, IL-6 and IL-17 and other inflammatory cytokines [16,17,18], and down-regulation of IL-2 in the blood cells of patients with autism [19].","tags":[{"name":"GFAP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000131095"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-7bb4c96224b07d50da7c484b1dce9e27","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"Furthermore, a study using laser capture microdissection of postmortem brains reported that NTRK2 expression was significantly lower in pyramidal neurons of the anterior cingulate cortex of patients with autism but not in the astrocytes of the anterior cingulate cortex and neurons of the frontal cortex of these patients [45].","tags":[{"name":"NTRK2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000148053"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-c7957c2e56ab6a433fed65653a369cc2","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"IL6 and TNFA promoter regions were also hypomethylated in the astrocytes of patients with autism but not in the neurons (Table 3 and Figure 2C,D).","tags":[{"name":"IL6","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136244"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-f8ef1ce8a6335a19e78de46e8e401492","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"In mice, astroglial glutamate transporter deficiency induced by an astrocyte-specific GLT1 knockout also increases synaptic excitability associated with repetitive behaviors, a phenotype frequently observed in autism [65].","tags":[{"name":"GLT1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110436"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-c67b0e2a73554c9c11bb6d1516b72d88","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Results: We found hyperexpression of TGFB1, TGFB2, IL6 and IFI16 and decreased expression of HAP1, SIRT1, NURR1, RELN, GPX1, EN2, SLC1A2 and SLC1A3 in the astrocytes of patients with autism, along with DNA hypomethylation of TGFB2, IL6, TNFA and EN2 gene promoters and a decrease in HAP1 promoter 5-hydroxymethylation in the astrocytes of patients with autism.","tags":[{"name":"TGFB1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-d09b4d4348f54dd6d6132d84e3f7796b","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"We also observed higher expression of IL6 in NSCs, astrocytes, and neurons in patients with autism.","tags":[{"name":"IL6","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136244"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-e2dc6499c65ec68d0025948d2421f1eb","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Considering these findings, it is conceivable that in the brain of patients with autism, inadequate astrocyte survival at an early age may result in insufficient neuronal protection and excessive synapse pruning, which involves the inflammatory complement genes, C1Q and C3, both epigenetically up-regulated in the postmortem brains of patients with autism [76].","tags":[{"name":"C3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000125730"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-00e4a865e7408d91c32d6d21a8bf7655","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Inflammatory and immune dysfunction includes elevated brain-specific antibodies against neuron-axon filament protein (NAFP) and glial fibrillary acidic protein (GFAP) [14], as well as chronic microglial activation that may mediate the dysfunction of glutamatergic excitatory receptors [15], increases in the levels of TGFB1, TNFA, IL-6 and IL-17 and other inflammatory cytokines [16,17,18], and down-regulation of IL-2 in the blood cells of patients with autism [19].","tags":[{"name":"IL-2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000109471"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-cd6216a2db14527060278c62d49c3fb3","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"Results: We found hyperexpression of TGFB1, TGFB2, IL6 and IFI16 and decreased expression of HAP1, SIRT1, NURR1, RELN, GPX1, EN2, SLC1A2 and SLC1A3 in the astrocytes of patients with autism, along with DNA hypomethylation of TGFB2, IL6, TNFA and EN2 gene promoters and a decrease in HAP1 promoter 5-hydroxymethylation in the astrocytes of patients with autism.","tags":[{"name":"IL6","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136244"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-4fdd1f3ce60d6761c12fb99ef26ea8f2","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Consistent with our findings, there are some reports that reduced expression of SLC1A2 contributes to the pathogenesis of autism and other major mental diseases [63] and that the deletion of 11p14-p12, which includes SLC1A2, is linked to autism phenotype [64].","tags":[{"name":"SLC1A2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110436"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-47328df1ec93126895a7e570d5018ca9","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Results: We found hyperexpression of TGFB1, TGFB2, IL6 and IFI16 and decreased expression of HAP1, SIRT1, NURR1, RELN, GPX1, EN2, SLC1A2 and SLC1A3 in the astrocytes of patients with autism, along with DNA hypomethylation of TGFB2, IL6, TNFA and EN2 gene promoters and a decrease in HAP1 promoter 5-hydroxymethylation in the astrocytes of patients with autism.","tags":[{"name":"NURR1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000153234"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-67ee662d3786070eeda336a3a7927d3a","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Results: We found hyperexpression of TGFB1, TGFB2, IL6 and IFI16 and decreased expression of HAP1, SIRT1, NURR1, RELN, GPX1, EN2, SLC1A2 and SLC1A3 in the astrocytes of patients with autism, along with DNA hypomethylation of TGFB2, IL6, TNFA and EN2 gene promoters and a decrease in HAP1 promoter 5-hydroxymethylation in the astrocytes of patients with autism.","tags":[{"name":"SIRT1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000096717"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-44c8705df1680051c87873725aca4270","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Notably, RELN as an extracellular matrix protein with reduced expression in the brain of patients with autism, is involved in cell positioning, neuronal migration, and dendritic spine formation [29,54,55], processes impacted in our in vitro autism studies, exhibited a highly significant reduced expression along with increased expression of TGFB1 as well as TGFB2 in astrocytes.","tags":[{"name":"RELN","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-9207ba36a287f3fc5c9104723904e3ea","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"However, IL1B exhibited a mild, but insignificant increase in these cell lines in autism vs. control subjects (Table 2).","tags":[{"name":"IL1B","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000125538"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-d42ed9b40600c6225d4b98f336a87734","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Regarding IFI16, an anti-inflammatory gene, we found a highly significantly reduced expression in the NSCs (75%) but a significantly increased expression in the astrocytes (>45%) of patients with autism vs. controls.","tags":[{"name":"gene","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000280371"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-9cd6d32f4ac4762395e50dfcdfbacd81","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"From a mechanistic point of view in autism, the activity of TGFB signaling genes is tightly linked to mTOR, whose increased expression affects TSC1 (a partner of HAP1) linked to autism neuropathology [60].","tags":[{"name":"TGFB","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-f9c1e6e3a32dd30ffb98ff9cf634065c","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"These findings suggest that TGFB-mediated HAP1 gene silencing, possibly via the induction of its promoter DNA methylation in neurons, may play an important functional role in autism pathogenesis, as HAP1 is a partner of TSC1 (tuberous sclerosis 1), a gene linked to autism phenotype [60,61].","tags":[{"name":"TGFB","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-80a50df7d57d48dc331dc480c3deaf89","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Interestingly, we also found a 30-fold decrease in the expression of NTRK2, the BDNF receptor gene, in the astrocytes of patients with autism.","tags":[{"name":"NTRK2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000148053"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-a904d1bcd98b42ec8a58caf095568097","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Particularly, IFI16 (interferon, gamma-inducible protein 16), an anti-inflammatory and innate antiviral gene, is decreased in the blood cells of infants and toddlers at risk for autism [24], but it is increased in the plasma of patients with autism [25].","tags":[{"name":"IFI16","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000163565"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-76867c829ed2cd314cb6d2b582391968","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"Engrailed Homeobox 2 gene (EN2) that, similar to RELN, controls pattern formation and dopaminergic neurogenesis during the development of the central nervous system and is linked to neuronal connectivity [36], trended for reduced expression in the NSCs and astrocytes of patients with autism, but in neurons exhibited increased expression (>3-fold, p = 0.05).","tags":[{"name":"EN2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000164778"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-7ad614905a32d274bd556b0149b609a3","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Where almost half of all TGFB1 promoter DNA methylation in neurons was due to 5-hmC, and the level of 5-hmC in autism was twice as much compared to the control subjects, this difference was not statistically significant.","tags":[{"name":"TGFB1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-f9daf4a32e95f32bf05d5607e55e8c2c","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Results: We found hyperexpression of TGFB1, TGFB2, IL6 and IFI16 and decreased expression of HAP1, SIRT1, NURR1, RELN, GPX1, EN2, SLC1A2 and SLC1A3 in the astrocytes of patients with autism, along with DNA hypomethylation of TGFB2, IL6, TNFA and EN2 gene promoters and a decrease in HAP1 promoter 5-hydroxymethylation in the astrocytes of patients with autism.","tags":[{"name":"SLC1A2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110436"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-7448e15b8ebf5327800200b914829bce","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"However, MKI67, a marker for cell proliferation, revealed a significantly increased expression in NSCs of patients with autism (p = 0.048).","tags":[{"name":"MKI67","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000148773"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-f8858e210ec5bdebcbf01ce315c8cd6a","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"The promoter regions of IFI16, SLC1A2, and SLC1A3 were largely unmethylated in astrocytes both in controls and patients with autism (Table 3) but were moderately methylated in neurons (signifying neuronal identity vs. astrocytes) where IFI16 and SLC1A3 were hypomethylated (~50%, and 40%, respectively, Table 3 and Figure 2H,I) and SLC1A2 exhibited no change in autism (Table 3).","tags":[{"name":"SLC1A3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000079215"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-bd710c02d3ef4618c8ca24e6a2f078e3","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Therefore, astrocytes might be the origin of an overall higher IFI16 expression in the brains of patients with autism.","tags":[{"name":"IFI16","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000163565"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-e0ae88fa506bb0f4ae93d7c3c3b87ad9","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Colony formation and cell–cell signaling were also compromised in NSCs and neurons from patients with autism, along with expression and/or epigenetic alterations of some critical genes such as RELN reported in clinical samples from these patients and/or in our limited postmortem brain samples.","tags":[{"name":"RELN","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-dba85514cb8195242436d51bcfb6536b","type":"Gene Disease Relationship","section":"Conclusion (http://purl.obolibrary.org/obo/IAO_0000615)","provider":"Open Targets Platform"},{"exact":"Regarding 5-hmC, we found an increase in the 5-hmC level of TGFB2 at site B in the neurons of patients with autism (~50%, Table 3 and Figure 2B).","tags":[{"name":"TGFB2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000092969"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-b3fa090dcca3ff8bbbf0f475fe954827","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Regarding IFI16, an anti-inflammatory gene, we found a highly significantly reduced expression in the NSCs (75%) but a significantly increased expression in the astrocytes (>45%) of patients with autism vs. controls.","tags":[{"name":"IFI16","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000163565"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-69f572770d8e5bd9d310acf895a812b6","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"In addition to proinflammatory genes, there are also reports of reduced expression of several key neuronal genes such as RELN, SLC1A2, GAD1, TSC1 and HAP1 in autism or autism spectrum disorders [27,28,29,30,31], which have not been causally linked to neuro-inflammation in autism.","tags":[{"name":"SLC1A2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110436"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-4a28b0567208eed948023f106b51578e","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"In addition to proinflammatory genes, there are also reports of reduced expression of several key neuronal genes such as RELN, SLC1A2, GAD1, TSC1 and HAP1 in autism or autism spectrum disorders [27,28,29,30,31], which have not been causally linked to neuro-inflammation in autism.","tags":[{"name":"RELN","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-9e4a686ea77616b8a60891e445a3cc61","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"Engrailed Homeobox 2 gene (EN2) that, similar to RELN, controls pattern formation and dopaminergic neurogenesis during the development of the central nervous system and is linked to neuronal connectivity [36], trended for reduced expression in the NSCs and astrocytes of patients with autism, but in neurons exhibited increased expression (>3-fold, p = 0.05).","tags":[{"name":"RELN","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-e9dfc0bd6570af9c4985928d6db904b5","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"DNA methylation analyses of TGFB2 revealed significant promoter DNA hypomethylation in the astrocytes of patients with autism at site A (Table 3 and Figure 2A).","tags":[{"name":"TGFB2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000092969"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-b80c20248f433c7d08b6da98bc4dfa44","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Altogether, these findings warrant further investigations in this era, particularly pertinent to the epigenetic silencing of SLC1A2, as its deletion and knockout are linked to autism phenotype in humans and mice [64,65].","tags":[{"name":"SLC1A2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110436"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-87edb0de33c8e6a6fcb5010d28ff5844","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"However, after differentiation, IFI16 exhibited significant up-regulation in the astrocytes, whereas IL6 was upregulated in both astrocytes and neurons of patients with autism.","tags":[{"name":"IL6","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136244"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-2806baad09a893677b87f337492be716","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Interestingly, all three of these genes, along with SNCA (alpha synuclein), which mediates inflammatory and immune responses [73], exhibited highly significantly reduced expression in our iPSC-derived astrocytes of patients with autism.","tags":[{"name":"SNCA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000145335"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-8ddb87c24ce1d28c741e9e28b5725a0b","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"The promoter regions of IFI16, SLC1A2, and SLC1A3 were largely unmethylated in astrocytes both in controls and patients with autism (Table 3) but were moderately methylated in neurons (signifying neuronal identity vs. astrocytes) where IFI16 and SLC1A3 were hypomethylated (~50%, and 40%, respectively, Table 3 and Figure 2H,I) and SLC1A2 exhibited no change in autism (Table 3).","tags":[{"name":"IFI16","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000163565"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-c23104fb5d5f3a36a636cd62f03af660","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"In postmortem brain samples, we found DNA hypomethylation of TGFB2 and IFI16 promoter regions, but DNA hypermethylation of HAP1 and SLC1A2 promoters in autism.","tags":[{"name":"SLC1A2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110436"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-01a8c859cb937462419895ab8a6cb89c","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Regarding TGFB genes, an increase in protein levels of TGFB1 was reported in postmortem brains and CSF of patients with autism [16].","tags":[{"name":"TGFB1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-9d070f81f478d6c532142501a3ca1d6b","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"SLC1A3, which is similar to SLC1A2, involved in rapid glutamate removal from the synaptic cleft [28] and had >4-fold higher expression in astrocytes vs. neurons, was also decreased by 90% only in the astrocytes of patients with autism (p = 0.002, Table 2).","tags":[{"name":"SLC1A2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110436"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-66328d2b7ad2b46033219a91d5cf0703","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"In this context, a genetic study of 469 trio families reported that genetic polymorphisms of NTRK2 are linked to autism pathogenesis [44].","tags":[{"name":"NTRK2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000148053"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-6ebc7c38e7d20645876aa6cf15f94f00","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"However, we found reduced expression of SLC1A2 in iPSC-derived astrocytes in autism (Table 2), as well as DNA hypermethylation of its promoter in the postmortem brains of patients with autism (Table 3 and Figure 2M).","tags":[{"name":"SLC1A2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110436"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-8d0abd4f803442f34a1d5c1485b90a28","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"As the growth rate of NSCs was greater in patients with autism, we also analyzed the expression of several other genes that support cell proliferation, including TWIST (a transcription factor important in embryonic development), IGF1 (an insulin-like growth factor) and Survivin (an apoptosis inhibitor) in NSCs which exhibited no changes in autism vs. controls.","tags":[{"name":"TWIST","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000122691"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-abb8c3d7035bdc3616eaeb06fb3120d4","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"IL6 and TNFA promoter regions were also hypomethylated in the astrocytes of patients with autism but not in the neurons (Table 3 and Figure 2C,D).","tags":[{"name":"TNFA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000232810"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-f678aaac61966c738fece3e75f0c541a","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Regarding anti-inflammatory genes, while IFI16 expression was significantly decreased in the NSCs of patients with autism (p = 0.005), its expression was increased in astrocytes (~50%, p = 0.02) and only insignificantly in the neurons of patients with autism.","tags":[{"name":"IFI16","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000163565"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-e624d30b71d96cbbdadaaaa024296467","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"GPX1, a gene that acts against oxidative stress [38], also exhibited decreased expression in the astrocytes of patients with autism (~40%, p = 0.015) but not quite a significant decrease in neurons (~30%, p = 0.05, one-tailed t-test) or in NSCs.","tags":[{"name":"GPX1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000233276"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-41d8bac9f2807f74278e22ece62f6346","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"In our studies, while the NSC growth rate was higher in patients with autism, SIRT1 was not affected in NSCs, though it was severely reduced in the astrocytes of patients with autism.","tags":[{"name":"SIRT1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000096717"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-5268eb1d02a7becbb45760b789bcc49c","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Significant differences include a disorganized colony formation and an increased cell growth rate in the NSCs of subjects with autism, along with reduced expression of EN2 and higher expression of BDNF (a growth-supporting gene), in the NSCs as well as astrocytes of patients with autism compared to the control subjects.","tags":[{"name":"EN2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000164778"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-145251a306deef5ac1fd54e5e2c0974a","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"MKI67 gene expression analysis (a marker for cell proliferation) revealed ~75% reduced expression of MKI67 in autism vs. controls (Figure 6G).","tags":[{"name":"MKI67","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000148773"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-2d3e3241660e8136191c4c76f27654cf","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Considering EN2’s role in pattern formation during the central nervous system development [36], its decreased expression in the NSCs of patients with autism may underlie the disorganized colony formation of NSCs we observed in autism.","tags":[{"name":"EN2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000164778"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-213e77a5f8031d313af6f30e5bdde9ba","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"These findings suggest that TGFB-mediated HAP1 gene silencing, possibly via the induction of its promoter DNA methylation in neurons, may play an important functional role in autism pathogenesis, as HAP1 is a partner of TSC1 (tuberous sclerosis 1), a gene linked to autism phenotype [60,61].","tags":[{"name":"TSC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000165699"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-c80d3a0ade73e0f6fb7271875ff3c7a7","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"The promoter regions of IFI16, SLC1A2, and SLC1A3 were largely unmethylated in astrocytes both in controls and patients with autism (Table 3) but were moderately methylated in neurons (signifying neuronal identity vs. astrocytes) where IFI16 and SLC1A3 were hypomethylated (~50%, and 40%, respectively, Table 3 and Figure 2H,I) and SLC1A2 exhibited no change in autism (Table 3).","tags":[{"name":"SLC1A2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110436"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-21169f43c200cb3cb9286d6029eb5a5c","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"In contrast to BDNF and IL6, we observed decreased expression of IFI16, an anti-inflammatory gene, in the NSCs of patients with autism.","tags":[{"name":"IFI16","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000163565"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-f949eaf307640912c221a97eddd0fa2e","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"In contrast to BDNF and IL6, we observed decreased expression of IFI16, an anti-inflammatory gene, in the NSCs of patients with autism.","tags":[{"name":"IL6","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136244"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-cccc6915942dd59c3c433f0e96173f59","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Inflammatory and immune dysfunction includes elevated brain-specific antibodies against neuron-axon filament protein (NAFP) and glial fibrillary acidic protein (GFAP) [14], as well as chronic microglial activation that may mediate the dysfunction of glutamatergic excitatory receptors [15], increases in the levels of TGFB1, TNFA, IL-6 and IL-17 and other inflammatory cytokines [16,17,18], and down-regulation of IL-2 in the blood cells of patients with autism [19].","tags":[{"name":"TNFA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000232810"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-10924d5cce3ca987ee63a674b8dd277b","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"From a mechanistic point of view in autism, the activity of TGFB signaling genes is tightly linked to mTOR, whose increased expression affects TSC1 (a partner of HAP1) linked to autism neuropathology [60].","tags":[{"name":"TSC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000165699"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-69f3e3aaa5b6d60637f33abd7fefa7d1","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Regarding TGFB genes, an increase in protein levels of TGFB1 was reported in postmortem brains and CSF of patients with autism [16].","tags":[{"name":"TGFB","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-9d070f81f478d6c532142501a3ca1d6b","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Particularly, IFI16 (interferon, gamma-inducible protein 16), an anti-inflammatory and innate antiviral gene, is decreased in the blood cells of infants and toddlers at risk for autism [24], but it is increased in the plasma of patients with autism [25].","tags":[{"name":"interferon, gamma-inducible protein 16","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000163565"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-76867c829ed2cd314cb6d2b582391968","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"Nurr1, in addition to being essential for synapse formation and neuronal migration [71], which were altered in autism in our studies, inhibits the inflammatory effects of NF-κB as well [72].","tags":[{"name":"Nurr1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000153234"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-97182e51326213060ca71d578fc59f30","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Inflammatory and immune dysfunction includes elevated brain-specific antibodies against neuron-axon filament protein (NAFP) and glial fibrillary acidic protein (GFAP) [14], as well as chronic microglial activation that may mediate the dysfunction of glutamatergic excitatory receptors [15], increases in the levels of TGFB1, TNFA, IL-6 and IL-17 and other inflammatory cytokines [16,17,18], and down-regulation of IL-2 in the blood cells of patients with autism [19].","tags":[{"name":"TGFB1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105329"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-319eb9cf12b7f764bab48353040cb565","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"Results: We found hyperexpression of TGFB1, TGFB2, IL6 and IFI16 and decreased expression of HAP1, SIRT1, NURR1, RELN, GPX1, EN2, SLC1A2 and SLC1A3 in the astrocytes of patients with autism, along with DNA hypomethylation of TGFB2, IL6, TNFA and EN2 gene promoters and a decrease in HAP1 promoter 5-hydroxymethylation in the astrocytes of patients with autism.","tags":[{"name":"EN2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000164778"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-fb5faa15591424dc29da28136c49a999","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"This suggests that reduced expression of RELN in the astrocytes of patients with autism is mediated by TGFB-mediated induction of snail activity.","tags":[{"name":"RELN","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-266f3800e3cb8d7ed538096cd5cb8267","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"These findings suggest that while increased expression of inflammatory genes may impact astrocyte and neuron health in autism, the increased expression of IFI16 might be a secondary reaction.","tags":[{"name":"IFI16","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000163565"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC11240613#opentargets-833be5efff33fd0d251c3de290b94b70","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"In postmortem brain samples, we found DNA hypomethylation of TGFB2 and IFI16 promoter regions, but DNA hypermethylation of HAP1 and SLC1A2 promoters in autism.","tags":[{"name":"TGFB2","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000092969"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/38994948#opentargets-3da6857aa17cc780162e372f9fa4c3fa","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"}],"fullTextIdList":["PMC11240613"]},{"source":"MED","extId":"23803181","pmcid":"PMC3702477","annotations":[{"prefix":"of individuals with ","exact":"autism","postfix":" .  ","tags":[{"name":"autism","uri":"http://compbio.charite.de/hpoweb/showterm?id=HP:0000717"}],"id":"http://europepmc.org/article/MED/23803181#phenebank-48d8d740532da99085511ad6bd129411","type":"Phenotype","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"PheneBank"},{"exact":"However, there was no significant difference between adults with autism versus controls for APP 88 kDa/NSE in BA9 of adults, so this is not meaningful.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-e713f1400db9bc0bd8fe8d94e0c43080","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"In the vermis of adult subjects with autism, RAC1 was significantly increased while APP 120, STEP 66 kDa, STEP 27 kDa, and homer 1 were significantly decreased when compared with healthy controls.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/23803181#opentargets-4d9c2734ed290e68c911131b30effb56","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Alterations in levels of these targets of FMRP could potentially be corrected therapeutically to ameliorate symptoms of autism.","tags":[{"name":"FMRP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102081"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-bc11060bbe8cb0f7a5fc6cc084f9c71d","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"Taken together, abnormal FMRP and mGluR5 signaling in people with autism who do not have a diagnosis of FXS could explain the multiple pathologies of autism.","tags":[{"name":"FMRP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102081"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-46822ff54a08ef81b7ecc6a474e28e3a","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"These represent the first findings of altered FMRP and mGluR5 in individuals with autism who do not have a comorbid diagnosis of FXS.","tags":[{"name":"mGluR5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000168959"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-a3e6845234f4897fac507873a39e03ea","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"More recently, using a different set of tissue samples, we observed reduced expression of GABRβ3 in the cerebellar vermis of adults with autism [31].","tags":[{"name":"GABRβ3","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000166206"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-3bea455eb840fb4ab58ad338c9508657","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"In BA9 of adults with autism there were significant increases in RAC1 and STEP 46 kDa and a significant decrease in homer 1 vs. controls.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/23803181#opentargets-f5067ee26762590e1e56ae28f96d4df5","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"The most salient results included: 1) upregulation of RAC1 in BA9 and the vermis of adults with autism, and in BA9 only among children with autism; 2) upregulation of APP120 and 88 kDa species in BA9 of children with autism and downregulation of APP 120 kDa in the vermis of adults with autism; 3) upregulation of STEP 46 kDa in BA9 and downregulation of STEP 66 kDa, 33 kDa, and 27 kDa in the vermis of adults with autism; 4) downregulation of STEP 61 kDa in BA9 of children with autism; and 5) downregulation of homer 1 in BA9 of adults with autism.","tags":[{"name":"STEP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110786"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-777e37b5050b03a39b0266f35021085b","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"The altered expression of proteins that may contribute to altered dendritic protein translation (homer 1), altered dendritic morphology (APP and RAC1), and receptor subunit expression (STEP), potentially contribute to the cognitive and behavioral impairments associated with autism and FXS.","tags":[{"name":"homer 1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000152413"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-c229356753a67127df863e0f232854e5","type":"Gene Disease Relationship","section":"Conclusion (http://purl.obolibrary.org/obo/IAO_0000615)","provider":"Open Targets Platform"},{"exact":"The latter therapies represent more targeted approaches, and as there are currently no approved glutamatergic inhibitors for use in humans, treatments that focus on mGluR5, RAC1 or APP may provide safe, effective means of ameliorating the behavioral deficits of autism.","tags":[{"name":"mGluR5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000168959"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-8d165144aabaf7809e5cbd5fad23a869","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"In BA9 of adults with autism we observed significantly increased ratios for RAC1/β-actin (P <0.031, d = 1.32), RAC1/NSE (P <0.042, d = 1.24) and significantly reduced ratios for homer 1/β-actin (P <0.027, d = −1.37), homer 1/NSE (P <0.020, d = −1.43) (Figures 1 and 4, Table 3).","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-ffa9689f9a02590110eb536a4be83862","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"The latter therapies represent more targeted approaches, and as there are currently no approved glutamatergic inhibitors for use in humans, treatments that focus on mGluR5, RAC1 or APP may provide safe, effective means of ameliorating the behavioral deficits of autism.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-c49941ec7d8e8cdf0f2536a4020ccfe4","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Expression of RAC1, APP, and homer 1 in BA9 of subjects with autism and controls.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-c867c2c4156343c0c11adc9c9267f6e7","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"The most salient results included: 1) upregulation of RAC1 in BA9 and the vermis of adults with autism, and in BA9 only among children with autism; 2) upregulation of APP120 and 88 kDa species in BA9 of children with autism and downregulation of APP 120 kDa in the vermis of adults with autism; 3) upregulation of STEP 46 kDa in BA9 and downregulation of STEP 66 kDa, 33 kDa, and 27 kDa in the vermis of adults with autism; 4) downregulation of STEP 61 kDa in BA9 of children with autism; and 5) downregulation of homer 1 in BA9 of adults with autism.","tags":[{"name":"homer 1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000152413"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-6382d1a8979a14abc37fda803bd08e40","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Expression of RAC1, APP, and homer 1 in the cerebellar vermis of subjects with autism and controls.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-a96f3d9342e19993c3d08a060fec5656","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"(B) Mean RAC1/NSE, APP 120 kDa/NSE, APP 88/NSE, and homer 1/NSE ratios for controls (gray histogram bars) and people with autism (black histogram bars) are shown for BA9.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-65399b6f9e843d6cf482036be6e00ef1","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"Impairment of fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling and its downstream cognates ras-related C3 botulinum toxin substrate 1, amyloid beta A4 precursor protein, striatal-enriched protein tyrosine phosphatase, and homer 1, in autism: a postmortem study in cerebellar vermis and superior frontal cortex","tags":[{"name":"ras-related C3 botulinum toxin substrate 1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/23803181#opentargets-e2700d96d4de8a285308baf52b0c4ea2","type":"Gene Disease Relationship","section":"Title (http://purl.org/dc/elements/1.1/title)","provider":"Open Targets Platform"},{"exact":"There was a significant reduction in homer 1/NSE in BA9 of adults with autism versus controls (P <0.020) (see Table 3).","tags":[{"name":"NSE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000111674"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-062c56d850b9691800bc18341b1c2d6c","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"A further connection to this pathway includes the reduction in Reelin protein in sera and blood from individuals with autism [94,95].","tags":[{"name":"Reelin","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-834adf15f52e39d139ed94ec6dfc1937","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Children with severe autism and aggression have been shown to express at least twice as much APP when compared with control children and four times as much APP when compared to children with mild autism [55].","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-025d5408a43031116bc62e98b33fe59d","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"(A) Mean RAC1/β-actin, APP 120 kDa/β-actin, APP 88/β-actin, and homer 1/β-actin ratios for controls (gray histogram bars) and people with autism (black histogram bars) are shown for the cerebellar vermis.","tags":[{"name":"homer 1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000152413"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-eb1af51ad2cc828e59e8ada73f9ecd3c","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"The latter therapies represent more targeted approaches, and as there are currently no approved glutamatergic inhibitors for use in humans, treatments that focus on mGluR5, RAC1 or APP may provide safe, effective means of ameliorating the behavioral deficits of autism.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-9fda283b9b1882917a4d2280de872bca","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"The altered expression of proteins that may contribute to altered dendritic protein translation (homer 1), altered dendritic morphology (APP and RAC1), and receptor subunit expression (STEP), potentially contribute to the cognitive and behavioral impairments associated with autism and FXS.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-b4b3a02a49d8f1bdb8c4eebe479998b3","type":"Gene Disease Relationship","section":"Conclusion (http://purl.obolibrary.org/obo/IAO_0000615)","provider":"Open Targets Platform"},{"exact":"We have previously observed reductions in FMRP in the cerebellar vermis and superior frontal cortex (Brodmann Area 9 (BA9)) of adults with autism and increased expression of mGluR5 in the vermis and BA9 of children with autism [30,31].","tags":[{"name":"FMRP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102081"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-05dcbf723f2cb599c9d35cf490ebc84e","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"While the presence of APP in this report probably reflects neuronal activity, increases in brain APP have also been correlated with increased GFAP in both Alzheimer’s disease [67] and autism [54] and these could also reflect glial activity.","tags":[{"name":"GFAP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000131095"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-0f0426cb38d163ad33549896cb848476","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Our laboratory has previously shown reduction in fragile X mental retardation protein (FMRP) and increase in metabotropic glutamate receptor 5 (mGluR5) in cerebellar vermis and superior frontal cortex (BA9) of individuals with autism.","tags":[{"name":"mGluR5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000168959"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/23803181#opentargets-e102b3b8399980bf84479c7d7f76c802","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"We did not observe alterations in levels of homer 1 or APP 88 kDa in the cerebellar vermis of adults with autism and there were no significant changes for any of the proteins in the cerebellar vermis of children with autism (Figures 1, 2, 3, Table 2).","tags":[{"name":"homer 1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000152413"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-ed8231398635219fe2f4b1cf71357086","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"(A) Mean RAC1/β-actin, APP 120 kDa/β-actin, APP 88/β-actin, and homer 1/β-actin ratios for controls (gray histogram bars) and people with autism (black histogram bars) are shown for BA9.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-8026c58502ea006ecc192bc0bcdc66e0","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"While a comparison of homer 1/NSE values between adults with autism who took anticonvulsants (mean of 0.13 ± 0.086) versus those who did not (mean of 0.23 ± 0.085) did not show a significant difference (P <0.063), it is possible that the reduction of homer 1/NSE is at least partly due to anticonvulsant use.","tags":[{"name":"NSE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000111674"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-203526c43392d9a53ea90ea90e5f52dd","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Representative samples of RAC1, APP, Homer 1, STEP, NSE, and β-actin from the cerebellar vermis and BA9 from controls and people with autism. C, controls; A, people with autism; RAC1, Ras-related C3 botulinum toxin substrate 1; APP, amyloid beta A4 precursor protein; STEP, striatal-enriched protein tyrosine phosphatase; NSE, neuronal specific enolase; BA9, Brodmann Area 9.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-46c8dbe9437684870f2f774bd6730015","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"(A) Mean RAC1/β-actin, APP 120 kDa/β-actin, APP 88/β-actin, and homer 1/β-actin ratios for controls (gray histogram bars) and people with autism (black histogram bars) are shown for the cerebellar vermis.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-673d088b78721581d6537535fc2db8dc","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"We hypothesize that reduction in FMRP and increase in mGluR5 may contribute to the dysregulation of these proteins in subjects with autism, resulting in multiple brain structural and behavioral deficits.","tags":[{"name":"FMRP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102081"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-01494c99959d824d5b27e197f87ff92e","type":"Gene Disease Relationship","section":"Conclusion (http://purl.obolibrary.org/obo/IAO_0000615)","provider":"Open Targets Platform"},{"exact":"Taken together, the results of current postmortem studies provide novel evidence that targets of FMRP and mGluR5 signaling (RAC1, homer 1, APP, and STEP) display altered expression in the cerebellar vermis and BA9 of people with autism.","tags":[{"name":"STEP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110786"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-401a1a4d2d407e9f16ecfa386698fd1d","type":"Gene Disease Relationship","section":"Conclusion (http://purl.obolibrary.org/obo/IAO_0000615)","provider":"Open Targets Platform"},{"exact":"There was a significant effect of anticonvulsant use on STEP 46 kDa/β-actin and a potential effect on homer 1/NSE, in BA9 of adults with autism.","tags":[{"name":"NSE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000111674"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/23803181#opentargets-e7719071f4d12bc2feef684f5983c71f","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Taken together, the results of current postmortem studies provide novel evidence that targets of FMRP and mGluR5 signaling (RAC1, homer 1, APP, and STEP) display altered expression in the cerebellar vermis and BA9 of people with autism.","tags":[{"name":"homer 1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000152413"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-bc72c170b75d241527387c6a3c8abcf2","type":"Gene Disease Relationship","section":"Conclusion (http://purl.obolibrary.org/obo/IAO_0000615)","provider":"Open Targets Platform"},{"exact":"It is tempting to speculate that RAC1 overexpression in autism may also be responsible for increased glial fibrillary acidic protein (GFAP) immunoreactivity detected in the brains of subjects with autism [54].","tags":[{"name":"glial fibrillary acidic protein","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000131095"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-d89b299c9c210144dbd2fe6c47c82c5b","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Taken together, the results of current postmortem studies provide novel evidence that targets of FMRP and mGluR5 signaling (RAC1, homer 1, APP, and STEP) display altered expression in the cerebellar vermis and BA9 of people with autism.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-d1cc4c143efb15516f1018a8b548684f","type":"Gene Disease Relationship","section":"Conclusion (http://purl.obolibrary.org/obo/IAO_0000615)","provider":"Open Targets Platform"},{"exact":"There were significant increases in RAC1, APP 120 kDa and APP 80 kDa proteins in BA9 of children with autism vs. healthy controls.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/23803181#opentargets-195084a16bc7baa140b55ff82c6c9a27","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"A recent report [88] showed that homer 1 is a risk gene in autism, thus validating our novel finding.","tags":[{"name":"homer 1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000152413"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-d4810d0c2dbf497007916f5602a02290","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"This is especially true as studies using transgenic mice with a constitutively active form of RAC1 show overproduction of small abnormal supernumerary spines [43,50,51], indicating that overproduction of RAC1 in BA9 of both children and adults with autism is evidence of overabundance of active and abnormal neuronal spines in the brains of people with autism examined in this study.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-b3c0596dd13ee92a752ade2855a6d568","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"(B) Mean RAC1/NSE, APP 120 kDa/NSE, APP 88/NSE, and homer 1/NSE ratios for controls (gray histogram bars) and people with autism (black histogram bars) are shown for BA9.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-1bb2c49ffe16128e5b3b3eb2d9f0b844","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"STEP 27 kDa/NSE was also significantly reduced in the cerebellar vermis of subjects with autism (P <0.038, d = −1.40) (Table 2).","tags":[{"name":"NSE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000111674"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-6a6a3b22e2bdafdc5c6122547e766521","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"The current studies demonstrated abnormal expression of several downstream biochemical targets of FMRP and mGluR5-mediated signaling in the brains of children and adults with autism.","tags":[{"name":"mGluR5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000168959"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-c10368037e67175d540dc8b2567ac321","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"There was a significant confounding effect of anticonvulant drugs on STEP 46 kDa/β-actin and a potential effect on homer 1/NSE in BA9 of adults with autism.","tags":[{"name":"NSE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000111674"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-3e826c6ef1388dbf270d51e8bddc546e","type":"Gene Disease Relationship","section":"Conclusion (http://purl.obolibrary.org/obo/IAO_0000615)","provider":"Open Targets Platform"},{"exact":"Representative samples of RAC1, APP, Homer 1, STEP, NSE, and β-actin from the cerebellar vermis and BA9 from controls and people with autism. C, controls; A, people with autism; RAC1, Ras-related C3 botulinum toxin substrate 1; APP, amyloid beta A4 precursor protein; STEP, striatal-enriched protein tyrosine phosphatase; NSE, neuronal specific enolase; BA9, Brodmann Area 9.","tags":[{"name":"Homer 1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000152413"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-4ecfc681ae3e0c65757019e8e70d8181","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"(A) Mean RAC1/β-actin, APP 120 kDa/β-actin, APP 88/β-actin, and homer 1/β-actin ratios for controls (gray histogram bars) and people with autism (black histogram bars) are shown for BA9.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-938e36e7b201e72a8ebd87f330552342","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"We did not observe alterations in levels of homer 1 or APP 88 kDa in the cerebellar vermis of adults with autism and there were no significant changes for any of the proteins in the cerebellar vermis of children with autism (Figures 1, 2, 3, Table 2).","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-c7ef1b77dfe656f87cd9da16f139610e","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Impairment of fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling and its downstream cognates ras-related C3 botulinum toxin substrate 1, amyloid beta A4 precursor protein, striatal-enriched protein tyrosine phosphatase, and homer 1, in autism: a postmortem study in cerebellar vermis and superior frontal cortex","tags":[{"name":"homer 1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000152413"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/23803181#opentargets-6dda43dde82f6cce6d61895e58c366d5","type":"Gene Disease Relationship","section":"Title (http://purl.org/dc/elements/1.1/title)","provider":"Open Targets Platform"},{"exact":"Expression of RAC1, APP, and homer 1 in BA9 of subjects with autism and controls.","tags":[{"name":"homer 1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000152413"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-768ebaa06bd272aee9b63d479a4fa232","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"In Fmr1 KO mice, treatment with MPEP or AFQ056 rescues deficits in prepulse inhibition (PPI) [99,100], a sensorimotor gating behavior that is disrupted in subjects with autism, schizophrenia, and other psychiatric disorders.","tags":[{"name":"Fmr1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102081"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-677ef1179db527aea970bea4c088875d","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Representative samples of RAC1, APP, Homer 1, STEP, NSE, and β-actin from the cerebellar vermis and BA9 from controls and people with autism. C, controls; A, people with autism; RAC1, Ras-related C3 botulinum toxin substrate 1; APP, amyloid beta A4 precursor protein; STEP, striatal-enriched protein tyrosine phosphatase; NSE, neuronal specific enolase; BA9, Brodmann Area 9.","tags":[{"name":"STEP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000110786"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-c9946aae56e14304446782800d4cade7","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"We hypothesized that targets of FMRP would display altered expression, further implicating this signaling pathway in the etiology of autism.","tags":[{"name":"FMRP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102081"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-5bd803e57d562b1cb8e30aefe616e504","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"STEP 46 kDa/β-actin ratio (P <0.012, d = 1.10) and STEP 46 kDa/NSE ratio (P <0.020, d = 1.02) were significantly increased in BA9 of adults with autism (Figures 1 and 3, Table 3).","tags":[{"name":"NSE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000111674"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-ac91bca8500e8fb5dabc467b592b91a6","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Our data tie in with our previous experiments, in which we have found reductions in protein expression for Reelin and GABA receptor subunit expression in multiple brain regions of people with autism.","tags":[{"name":"Reelin","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-08dcfade8ccea23fdd7c0d2fad120e9d","type":"Gene Disease Relationship","section":"Conclusion (http://purl.obolibrary.org/obo/IAO_0000615)","provider":"Open Targets Platform"},{"exact":"Taken together, abnormal FMRP and mGluR5 signaling in people with autism who do not have a diagnosis of FXS could explain the multiple pathologies of autism.","tags":[{"name":"mGluR5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000168959"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-903e8160600ae2681ed799dc7486be2f","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Our findings provide further evidence of abnormalities in FMRP and mGluR5 signaling partners in brains of individuals with autism and open the door to potential targeted treatments which could help ameliorate the symptoms of autism.","tags":[{"name":"mGluR5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000168959"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/23803181#opentargets-dcc41e57eb5b010fc50dd61546934fc5","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"We have previously observed reductions in FMRP in the cerebellar vermis and superior frontal cortex (Brodmann Area 9 (BA9)) of adults with autism and increased expression of mGluR5 in the vermis and BA9 of children with autism [30,31].","tags":[{"name":"mGluR5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000168959"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-cd0ffba2c3e6cb52a9572175e49bd75d","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"In the cerebellar vermis of adults with autism we observed significantly increased expression of the RAC1/β-actin ratio (P <0.025, d = 1.62) and the RAC1/NSE ratio (P <0.016, d = 1.73) (Figures 1 and 2, Table 2).","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-e31accacb00ebb87b531ac5e5dd7980b","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Impairment of fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling and its downstream cognates ras-related C3 botulinum toxin substrate 1, amyloid beta A4 precursor protein, striatal-enriched protein tyrosine phosphatase, and homer 1, in autism: a postmortem study in cerebellar vermis and superior frontal cortex","tags":[{"name":"amyloid beta A4 precursor protein","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/23803181#opentargets-5f5ba6d04c262f95f4177d871eb94d89","type":"Gene Disease Relationship","section":"Title (http://purl.org/dc/elements/1.1/title)","provider":"Open Targets Platform"},{"exact":"Studies have demonstrated significantly elevated levels of secreted APP and its cleavage products, including beta amyloid (Aβ), in individuals with autism [55-57].","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-059991d2b890d737cfe876ba82fe8e95","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Ratios for STEP 66 kDa/β-actin (P <0.023, d = −1.51), STEP 66 kDa/NSE (P <0.018, d = −1.59), STEP 33 kDa/β-actin (P <0.024, d = −1.63) and STEP 33 kDa/NSE (P <0.020, d = −1.68) were significantly reduced in the cerebellar vermis of adults with autism (Figures 1 and 3, Table 2).","tags":[{"name":"NSE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000111674"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-2fe6ca16706894647f2a4f529dd94fb2","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"(A) Mean RAC1/β-actin, APP 120 kDa/β-actin, APP 88/β-actin, and homer 1/β-actin ratios for controls (gray histogram bars) and people with autism (black histogram bars) are shown for the cerebellar vermis.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-86bec5474c7f6d48cd689b5bcce22d87","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"It is tempting to speculate that RAC1 overexpression in autism may also be responsible for increased glial fibrillary acidic protein (GFAP) immunoreactivity detected in the brains of subjects with autism [54].","tags":[{"name":"GFAP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000131095"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-d89b299c9c210144dbd2fe6c47c82c5b","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Taken together, the results of current postmortem studies provide novel evidence that targets of FMRP and mGluR5 signaling (RAC1, homer 1, APP, and STEP) display altered expression in the cerebellar vermis and BA9 of people with autism.","tags":[{"name":"FMRP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102081"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-cd6350259fce22d5ec2cd445b759e065","type":"Gene Disease Relationship","section":"Conclusion (http://purl.obolibrary.org/obo/IAO_0000615)","provider":"Open Targets Platform"},{"exact":"This excess of APP may result in decreased neural pruning and increased neural proliferation, helping to account for the presence of long, immature dendrites of neurons from patients with autism and FXS [59].","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-b831bf690568dae307232e7eed728627","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Representative samples of RAC1, APP, Homer 1, STEP, NSE, and β-actin from the cerebellar vermis and BA9 from controls and people with autism. C, controls; A, people with autism; RAC1, Ras-related C3 botulinum toxin substrate 1; APP, amyloid beta A4 precursor protein; STEP, striatal-enriched protein tyrosine phosphatase; NSE, neuronal specific enolase; BA9, Brodmann Area 9.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-0ada77c948c8cd5508901dc306f424e0","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"Adults with autism who were taking anticonvulsants displayed significantly lower homer 1/NSE in BA9 than controls and adults with autism who were not taking anticonvulsants (t(15) = 2.69, P <0.017).","tags":[{"name":"NSE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000111674"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-5a3e997ad18a1d927cde56b9d20804d4","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Expression of RAC1, APP, and homer 1 in the cerebellar vermis of subjects with autism and controls.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-abbe0f20c1e46bac0bee02178bac9210","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"(A) Mean RAC1/β-actin, APP 120 kDa/β-actin, APP 88/β-actin, and homer 1/β-actin ratios for controls (gray histogram bars) and people with autism (black histogram bars) are shown for BA9.","tags":[{"name":"homer 1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000152413"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-c1f9056e1d12ebe11eb8572ed924213a","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"While the presence of APP in this report probably reflects neuronal activity, increases in brain APP have also been correlated with increased GFAP in both Alzheimer’s disease [67] and autism [54] and these could also reflect glial activity.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-581fe1019bf1b7a201611fa75f4ded47","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"(B) Mean RAC1/NSE, APP 120 kDa/NSE, APP 88/NSE, and homer 1/NSE ratios for controls (gray histogram bars) and people with autism (black histogram bars) are shown for BA9.","tags":[{"name":"NSE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000111674"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-20b25fe19691897e9bcac9883a81735c","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"(B) Mean RAC1/NSE, APP 120 kDa/NSE, APP 88/NSE, and homer 1/NSE ratios for controls (gray histogram bars) and people with autism (black histogram bars) are shown for the cerebellar vermis.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-6ac67eedde0a6bc60b6659a4433f04a9","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"Our laboratory has demonstrated reduced Reelin protein expression in sera, BA9, and the cerebella of adults with autism [94-96], supporting the idea that Reelin deficits contribute to the pathology of autism.","tags":[{"name":"Reelin","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-72cccf6b18ed4b41068c8af778bbd21b","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"These events may also lead to impaired GABAergic and Reelin signaling, ultimately leading to the morphological, cognitive, and behavioral deficits associated with autism (Figure 5).","tags":[{"name":"Reelin","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-2f1828e59a7d81d00eb58b737c248690","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"These represent the first findings of altered FMRP and mGluR5 in individuals with autism who do not have a comorbid diagnosis of FXS.","tags":[{"name":"FMRP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102081"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-1a3d379a4278c9cbf18e2fff85179ffb","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"In BA9 of children with autism we observed significant increases in ratios for RAC1/β-actin (P <0.008, d = 2.74), RAC1/NSE (P <0.017, d = 2.09), APP 120 kDa/β-actin (P <0.032, d = 2.03), APP 120 kDa/NSE (P <0.017, d = 2.12), APP 88 kDa/β-actin (P <0.025, d = 2.54) and APP 88 kDa/NSE (P <0.012, d = 3.24) (Figures 1 and 4, Table 3).","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-e867f0ea7098cd7561a79995d320584c","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Our findings provide further evidence of abnormalities in FMRP and mGluR5 signaling partners in brains of individuals with autism and open the door to potential targeted treatments which could help ameliorate the symptoms of autism.","tags":[{"name":"FMRP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102081"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/23803181#opentargets-987a0ba05f2c835b864906712bab14d3","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"(B) Mean RAC1/NSE, APP 120 kDa/NSE, APP 88/NSE, and homer 1/NSE ratios for controls (gray histogram bars) and people with autism (black histogram bars) are shown for the cerebellar vermis.","tags":[{"name":"NSE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000111674"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-1a59e15d67068624f5d95c0b880c5f82","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"Our laboratory has previously shown reduction in fragile X mental retardation protein (FMRP) and increase in metabotropic glutamate receptor 5 (mGluR5) in cerebellar vermis and superior frontal cortex (BA9) of individuals with autism.","tags":[{"name":"FMRP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102081"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/23803181#opentargets-a753043d7526aef4e3a7bdbc34d25af0","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"We hypothesize that reduction in FMRP and increase in mGluR5 may contribute to the dysregulation of these proteins in subjects with autism, resulting in multiple brain structural and behavioral deficits.","tags":[{"name":"mGluR5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000168959"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-573be0e4eef4c01a155157ebb691d70d","type":"Gene Disease Relationship","section":"Conclusion (http://purl.obolibrary.org/obo/IAO_0000615)","provider":"Open Targets Platform"},{"exact":"The observed reduction in homer 1 expression in BA9 of adults with autism may have functional consequences resulting in altered glutamatergic expression and cognitive deficits associated with both FXS and autism.","tags":[{"name":"homer 1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000152413"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-6d653cddb3c692222d6b7a8841089da9","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Expression of RAC1, APP, and homer 1 in the cerebellar vermis of subjects with autism and controls.","tags":[{"name":"homer 1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000152413"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-060a766848037e187f0c48c6bc4307c8","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"Expression of RAC1, APP, and homer 1 in BA9 of subjects with autism and controls.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-73c7ec2421e3b83aa5a75380568db8af","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"The most salient results included: 1) upregulation of RAC1 in BA9 and the vermis of adults with autism, and in BA9 only among children with autism; 2) upregulation of APP120 and 88 kDa species in BA9 of children with autism and downregulation of APP 120 kDa in the vermis of adults with autism; 3) upregulation of STEP 46 kDa in BA9 and downregulation of STEP 66 kDa, 33 kDa, and 27 kDa in the vermis of adults with autism; 4) downregulation of STEP 61 kDa in BA9 of children with autism; and 5) downregulation of homer 1 in BA9 of adults with autism.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-805817e84bf2f3bb7610a9670dec3e76","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Taken together, the results of current postmortem studies provide novel evidence that targets of FMRP and mGluR5 signaling (RAC1, homer 1, APP, and STEP) display altered expression in the cerebellar vermis and BA9 of people with autism.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-a6fce2bc57dc3cabda1329a5171d6ad4","type":"Gene Disease Relationship","section":"Conclusion (http://purl.obolibrary.org/obo/IAO_0000615)","provider":"Open Targets Platform"},{"exact":"Our current results, particularly the increased expression of APP 120 kDa and 88 kDa in BA9 of children with autism, verify these earlier findings.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-d0ba414b9bfa532aa21a827e4c6e8673","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"(B) Mean RAC1/NSE, APP 120 kDa/NSE, APP 88/NSE, and homer 1/NSE ratios for controls (gray histogram bars) and people with autism (black histogram bars) are shown for the cerebellar vermis.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-ef734cb7326fe6c1630835e34c19089f","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"The most salient results included: 1) upregulation of RAC1 in BA9 and the vermis of adults with autism, and in BA9 only among children with autism; 2) upregulation of APP120 and 88 kDa species in BA9 of children with autism and downregulation of APP 120 kDa in the vermis of adults with autism; 3) upregulation of STEP 46 kDa in BA9 and downregulation of STEP 66 kDa, 33 kDa, and 27 kDa in the vermis of adults with autism; 4) downregulation of STEP 61 kDa in BA9 of children with autism; and 5) downregulation of homer 1 in BA9 of adults with autism.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-01eda9963c4d0eb71f87b58807ef0219","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Representative samples of RAC1, APP, Homer 1, STEP, NSE, and β-actin from the cerebellar vermis and BA9 from controls and people with autism. C, controls; A, people with autism; RAC1, Ras-related C3 botulinum toxin substrate 1; APP, amyloid beta A4 precursor protein; STEP, striatal-enriched protein tyrosine phosphatase; NSE, neuronal specific enolase; BA9, Brodmann Area 9.","tags":[{"name":"NSE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000111674"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-5966932971e3d53fd0a44e89fe11d50b","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"Building upon the mGluR5 theory of FXS [26] and our own findings using postmortem brain tissue from people with autism, we hypothesize that activation of mGluR5 in the brains of children with autism [30,31,97] leads to subsequent translocation of protein for FMRP from neuronal cell bodies to dendrites, and eventual decrease in FMRP at synapses [25].","tags":[{"name":"mGluR5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000168959"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-63ed573a562564ab79fcae05dc9d544b","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"There were significant increases in RAC1, APP 120 kDa and APP 80 kDa proteins in BA9 of children with autism vs. healthy controls.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/23803181#opentargets-83f41cf23ea30ade1d2799d6b50c8b08","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Taken together, the results of current postmortem studies provide novel evidence that targets of FMRP and mGluR5 signaling (RAC1, homer 1, APP, and STEP) display altered expression in the cerebellar vermis and BA9 of people with autism.","tags":[{"name":"mGluR5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000168959"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-f0bee9e7439de90aa02db35cd819f722","type":"Gene Disease Relationship","section":"Conclusion (http://purl.obolibrary.org/obo/IAO_0000615)","provider":"Open Targets Platform"},{"exact":"The current studies demonstrated abnormal expression of several downstream biochemical targets of FMRP and mGluR5-mediated signaling in the brains of children and adults with autism.","tags":[{"name":"FMRP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102081"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-b849845870c1e997d2c1e32ccf187a78","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"The altered expression of proteins that may contribute to altered dendritic protein translation (homer 1), altered dendritic morphology (APP and RAC1), and receptor subunit expression (STEP), potentially contribute to the cognitive and behavioral impairments associated with autism and FXS.","tags":[{"name":"APP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000142192"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-e812508cd2b3f54e387cc8306f3d4755","type":"Gene Disease Relationship","section":"Conclusion (http://purl.obolibrary.org/obo/IAO_0000615)","provider":"Open Targets Platform"},{"exact":"Our results of increased expression of RAC1 in the cerebellar vermis and BA9 of adults with autism, and in BA9 of children with autism, are novel and have never previously been reported in human postmortem brains of subjects with autism; they may be the result of reduced expression of FMRP in the same regions [30,31], and they mirror the same findings in Fmr1 KO mice.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-3a8a9999285cd6a8a874dd7c05a3d61b","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Higher levels of RAC1 in Caucasian adults with autism compared to African American adults with autism is a novel finding that requires further investigation, and it may be due to genetic or epigenetic factors.","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-f6fde5e6f3faf500ac3781d04fa80a74","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"This reduction in Reelin expression may be due to dysregulation of FMRP expression in people with autism.","tags":[{"name":"Reelin","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-f45cf57bbe690e5ebc62b365b6ba11e4","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Our laboratory has previously shown reduction in fragile X mental retardation protein (FMRP) and increase in metabotropic glutamate receptor 5 (mGluR5) in cerebellar vermis and superior frontal cortex (BA9) of individuals with autism.","tags":[{"name":"metabotropic glutamate receptor 5","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000168959"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/23803181#opentargets-e102b3b8399980bf84479c7d7f76c802","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"This reduction in Reelin expression may be due to dysregulation of FMRP expression in people with autism.","tags":[{"name":"FMRP","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102081"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-80bdd0a27e07ea02709657e3572f6921","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Reelin has long been considered a potential biomarker for autism due to its roles during development.","tags":[{"name":"Reelin","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000189056"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-a4a540acf88020e6e8da059c92143f60","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"It is tempting to speculate that RAC1 overexpression in autism may also be responsible for increased glial fibrillary acidic protein (GFAP) immunoreactivity detected in the brains of subjects with autism [54].","tags":[{"name":"RAC1","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000136238"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3702477#opentargets-b5a0fb9b6b41704dddab91af9086d051","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"}],"fullTextIdList":["PMC3702477"]},{"source":"MED","extId":"22662007","pmcid":"PMC3361046","annotations":[{"exact":"The primary objective of this study was to assess if commonly available blood tests reflecting the humoral immunity profile (IgA, IgG, IgM, and IgE) are able to identify recently diagnosed children with regressive autism.","tags":[{"name":"IgM","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102245"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-ded78b8fa7128c3d9c8b1e4cad8d4400","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"There are, however, studies in which there is no increase in IgE in children with autism [9, 25].","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-25db74707b1346b7e03dd035cc1cfb69","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Increased expression of CD23 in the studied children diagnosed with autism corresponded with no difference in total serum IgE level from children in the control group.","tags":[{"name":"CD23","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000104921"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-4e4d594cef4085faaa6f46536dd43521","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"It would be interesting to know if sCD23 correlates with serum IgE in children with autism with elevated serum IgE.","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-468dfaad4383dd4499668ea82420e3c7","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"The humoral immunity profile, described by three binary variables, IgA < 0.97 g/l, IgE > 36 IU/ml, and IgG > 6.3 g/l, with a sensitivity of 79% and a specificity of 83% (p < 0.0001), was able to identify children with autism (Table III).","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-a611b1aa703899dc945606cf21e0477b","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"The humoral immunity profile, described by three binary variables, IgA < 0.97 g/l, IgE > 36 IU/ml, and IgG > 6.3 g/l, with a sensitivity of 79% and a specificity of 83% (p < 0.0001), was able to identify children with autism.","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-ae13a8eca380ad92e9b9ea488e5d6276","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Other authors’ observations pertaining to IgG and IgM in children with autism are conflicting.","tags":[{"name":"IgM","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102245"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-4ade547b5649892394c1734d458cf99d","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"The primary objective of the study was to assess if blood tests reflecting humoral immunity (IgA, IgG, IgM, IgE) are useful in identifying children with regressive autism.","tags":[{"name":"IgM","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102245"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-22dd67f81142d0973c190a044a29b3d2","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"A recent study estimated that serum IgA was lower in children with autism than that found in age- and sex-matched controls even though none of the children fulfilled the criteria of IgA deficiency or partial IgA deficiency.","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-d21ad9fdbe24dacfac733f8a92c91806","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Comparison of serum immunoglobulin levels of IgA, IgE, IgG and IgM in children with autism (case) and in healthy (control) children (mean with SEM, two-tailed p)","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-db5525af3c249d57ae82af049f1b56c4","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"An increased number of CD23-positive cells was not previously described in children with autism.","tags":[{"name":"CD23","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000104921"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-8d8d0ccbbf7a6993907937af1c5c9af7","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Heuer et al. described decreased levels of IgG and IgM in children with autism and found that this reduction correlated with behavioural severity [34].","tags":[{"name":"IgM","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102245"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-36522a18ee04141e345e1ddda40ceb92","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"The highest risk of autism diagnosis was associated with IgA < 0.97 g/l (OR – 23.0; 95% CI 3.41-159.00; p < 0.001).","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-4360fc84214318652d592900b8d9e134","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"In the current study, increased expression of CD19/CD23 in children diagnosed with autism was found.","tags":[{"name":"CD23","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000104921"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-847f8666b8cda21e5828c6eb8e05e4b1","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"The humoral immunity profile, described by three binary variables, IgA < 0.97 g/l, IgE > 36 IU/ml, and IgG > 6.3 g/l, with a sensitivity of 79% and a specificity of 83% (p < 0.0001), was able to identify children with autism (Table III).","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-f01304f4b6c41d999e9c9690a3397dae","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"The highest risk of autism diagnosis was associated with IgA < 0.97g/l (OR – 23.0; p < 0.001).","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-5d93575d44b2528bf1eae937fa3b88fe","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"The highest risk of autism diagnosis was associated with IgA < 0.97g/l (OR – 23.0; p < 0.001).","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-976e3f715f1344e4e87f86872802672e","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"The highest risk of autism diagnosis was associated with IgA < 0.97 g/l (OR – 23.0; 95% CI 3.41-159.00; p < 0.001).","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-4cc5229d9c42eb72a842697e68e66031","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"An increased number of CD23-positive cells was not previously described in children with autism.","tags":[{"name":"CD23","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000104921"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-3aaaee21f30a03331a8ab717f3581e95","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Similarly, other authors’ observations suggest that IgA in children with autism may be within the lower limits of normal or slightly below and that the prevalence of autism is low in the IgA deficient group [19, 20].","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-b351e914294b91bacdb62be78bfcc104","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"A higher number of CD19/CD23 was found in children diagnosed with autism than in the control group (36.82 ±6.72% vs. 18.20 ±3.95%; p < 0.02).","tags":[{"name":"CD23","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000104921"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-eba612e07badfe979ce3a0ad7e807545","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"A higher number of CD19/CD23 was found in children diagnosed with autism than in the control group (36.82 ±6.72% vs. 18.20 ±3.95%; p < 0.02).","tags":[{"name":"CD19","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000177455"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-3a962abbcc05ac80dcb2e04b2f421b42","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open 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autism.","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-b5948630c963931560816fbc37366d53","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"In conclusion, although extreme deviations and evident pathologies were not found, the pattern of humoral and cellular immunity in the studied children with autism can be described as low-normal IgA and high-normal IgE with B-cell activation manifesting as increased expression of a low affinity receptor for IgE.","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-845a70d91c85f59dd39ef8ba0fa4126b","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"The primary objective of the study was to assess if blood tests reflecting humoral immunity (IgA, IgG, IgM, IgE) are useful in identifying children with regressive autism.","tags":[{"name":"IgM","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102245"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-39ef7f3f99a56b4fafaf49244b0b9ffa","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Of these 3 components, IgA had the most important contribution in the humoral immunity profile in children with autism.","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-ad3b3afe5cde2b10604a561ceec5ba80","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"An IgE-dependent allergy to food and environmental antigens does not appear to be more prevalent in children with autism [25, 29].","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-5d3be060f12c2e2c235258e60e16ee02","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Other authors’ observations pertaining to IgG and IgM in children with autism are conflicting.","tags":[{"name":"IgM","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102245"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-6954c39c1c1ddee8b0638e4d07543e5b","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Heuer et al. described decreased levels of IgG and IgM in children with autism and found that this reduction correlated with behavioural severity [34].","tags":[{"name":"IgM","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102245"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-d66d8d0530008da6a4430492eb81f855","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"IgE levels above the upper limit for age were noted in 12/24 (50.0%) children with autism and in 5/24 (20.8%) of the healthy children (p = 0.035).","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-f5997b22f2def779d5a31bab38139e3c","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"The humoral immunity profile, described by three binary variables, IgA < 0.97 g/l, IgE > 36 IU/ml, and IgG > 6.3 g/l, with a sensitivity of 79% and a specificity of 83% (p < 0.0001), was able to identify children with autism (Table III).","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-39d7c63d6e4e047e244d0a062b4932a4","type":"Gene Disease 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old.","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-c3096757db5c2b995abd2ebbbc587df8","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"A higher number of CD19/CD23 was found in children diagnosed with autism than in the control group (36.82 ±6.72% vs. 18.20 ±3.95%; p < 0.02).","tags":[{"name":"CD23","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000104921"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-1d701ce91c3794d608b68df617c3fdf3","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"The age of the studied patients did not exceed 7 years; therefore, the maturation process of IgA production could not have been completed and it could be suspected that this process may be slower in children with autism compared to healthy children.","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-d25aea7feb0c73cca7d1554a40dd33d9","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"A recent study estimated that serum IgA was lower in children with autism than that found in age- and sex-matched controls even though none of the children fulfilled the criteria of IgA deficiency or partial IgA deficiency.","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-072aa69a915ec460ffdf8786229bec97","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Also, Gupta found an increase in IgE in 52.0% among 25 children with autism (13/25) [24].","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-3a7bbdc7c766adf368ce101b50058b86","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Median and interquartile range (IQR) of serum IgA was lower in children with autism compared to the controls (0.82 g/l [0.61-0.95] vs. 1.43 g/l [0.80-1.62]; p < 0.012).","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-8b6064aee89ad6311f55a557b6d7172c","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Of these 3 components, IgA had the most important contribution in the humoral immunity profile in children with autism.","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-9de069e1c1e0c6b0f5afbf5ca70e5f48","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"The age of the studied patients did not exceed 7 years; therefore, the maturation process of IgA production could not have been completed and it could be suspected that this process may be slower in children with autism compared to healthy children.","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-8eeb204133f004367d72a4a57ce6a144","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"A subtle shift of serum immunoglobulins consisting of low-normal IgA and B cell activation expressed by an increase of CD23-positive cells may characterize children with regressive autism aged 3-6 years old.","tags":[{"name":"CD23","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000104921"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-c1b4d5ada647217b9dd590712994e9cc","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"It would be interesting to know if sCD23 correlates with serum IgE in children with autism with elevated serum IgE.","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-e0631db79e639c58a5c262b59f796982","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"In healthy children the total serum IgE level showed a correlation with age (r = 0.59, p < 0.05) but not in children with autism.","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-c775a64470d00ca7f787bd32fb7afe04","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"In conclusion, although extreme deviations and evident pathologies were not found, the pattern of humoral and cellular immunity in the studied children with autism can be described as low-normal IgA and high-normal IgE with B-cell activation manifesting as increased expression of a low affinity receptor for IgE.","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-5e38aba9aabe34e7086ec6e80c129276","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Therefore, it appears that at least for some children with autism serum IgE levels may have clinical significance.","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-9987909f7146bb34033f5f31319b74ff","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"The primary objective of the study was to assess if blood tests reflecting humoral immunity (IgA, IgG, IgM, IgE) are useful in identifying children with regressive autism.","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-15626da3ba5d35fbd1fd3a77f7b18c4a","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"A subtle shift of serum immunoglobulins consisting of low-normal IgA and B cell activation expressed by an increase of CD23-positive cells may characterize children with regressive autism aged 3-6 years old.","tags":[{"name":"CD23","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000104921"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-b9e0e535fa266ccdfd152862cb8455d5","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Comparison of serum immunoglobulin levels of IgA, IgE, IgG and IgM in children with autism (case) and in healthy (control) children (mean with SEM, two-tailed p)","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-74e979ce4f6034b9ce12b94028618306","type":"Gene Disease Relationship","section":"Article 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autism.","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-197d623c9f256f5926645e4e97fdbc66","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"An IgE-dependent allergy to food and environmental antigens does not appear to be more prevalent in children with autism [25, 29].","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-5e1490d3ecd1745426311364b4b8ef25","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets 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threshold.","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-d4f801748b14569bbef922fad0e12a01","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Low serum IgA and increased expression of CD23 on B lymphocytes in peripheral blood in children with regressive autism aged 3-6 years old","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-d117e906d9e9238654a9c5d62872f12e","type":"Gene Disease Relationship","section":"Title (http://purl.org/dc/elements/1.1/title)","provider":"Open 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autism.","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-ffc06246b5050f94174a48267a3994b1","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"The humoral immunity profile, described by three binary variables, IgA < 0.97 g/l, IgE > 36 IU/ml, and IgG > 6.3 g/l, with a sensitivity of 79% and a specificity of 83% (p < 0.0001), was able to identify children with autism.","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-1d8da6aafbd2c4be5c75070601bb8b73","type":"Gene Disease 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(http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"Comparison of serum immunoglobulin levels of IgA, IgE, IgG and IgM in children with autism (case) and in healthy (control) children (mean with SEM, two-tailed p)","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-56ee85ab4b28e5f621281006ab796f1e","type":"Gene Disease Relationship","section":"Article (http://semanticscience.org/resource/SIO_001029)","provider":"Open Targets Platform"},{"exact":"The humoral immunity profile, described by three binary variables, IgA < 0.97 g/l, IgE > 36 IU/ml, and IgG > 6.3 g/l, with a sensitivity of 79% and a specificity of 83% (p < 0.0001), was able to identify children with autism (Table III).","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-35e9e6c866ad9717c8c08a4a68aa43c6","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"The primary objective of the study was to assess if blood tests reflecting humoral immunity (IgA, IgG, IgM, IgE) are useful in identifying children with regressive autism.","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/MED/22662007#opentargets-3c32cffac0dc87b8fea1fa34e5e5f124","type":"Gene Disease Relationship","section":"Abstract (http://purl.org/dc/terms/abstract)","provider":"Open Targets Platform"},{"exact":"Median and IQR levels of IgE were higher in the sera of children with autism although the difference was not significant (Table I).","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-447035397294a7226ed5c7c998c57eff","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"Lower serum IgA levels were associated with a higher white blood cell count (r = –0.50, p < 0.01) in children with autism but not in healthy children.","tags":[{"name":"IgA","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000105369"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-57d3c88d3b3bd13661af4080ec288612","type":"Gene Disease Relationship","section":"Results (http://purl.org/orb/Results)","provider":"Open Targets Platform"},{"exact":"In this study, total serum IgE in children with autism was higher than in healthy children, but the difference did not reach the significance threshold.","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-e0217804f07cf725a77fa78f95b96b52","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"The primary objective of this study was to assess if commonly available blood tests reflecting the humoral immunity profile (IgA, IgG, IgM, and IgE) are able to identify recently diagnosed children with regressive autism.","tags":[{"name":"IgM","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000102245"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-d103ae8e5e0e8f434d0d9726e04e0ddf","type":"Gene Disease Relationship","section":"Introduction (http://purl.org/orb/Introduction)","provider":"Open Targets Platform"},{"exact":"However, serum IgE levels above the reference range for age were significantly more common in the group of children with autism than in the control group (50.0% vs. 20.8%).","tags":[{"name":"IgE","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000211891"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-bb23c76af6ee573a55b184760e8b459d","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"Increased expression of CD23 in the studied children diagnosed with autism corresponded with no difference in total serum IgE level from children in the control group.","tags":[{"name":"CD23","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000104921"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=EFO_0003758"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-c65778fc0f88e6defd4297945e5d25b7","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"},{"exact":"In the current study, increased expression of CD19/CD23 in children diagnosed with autism was found.","tags":[{"name":"CD19","uri":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000177455"},{"name":"autism","uri":"https://www.ebi.ac.uk/ols/ontologies/efo/terms?short_form=HP_0000717"}],"id":"http://europepmc.org/article/PMC/PMC3361046#opentargets-c7d346f0e627a21bc72af351fa73a9ac","type":"Gene Disease Relationship","section":"Discussion (http://purl.org/orb/Discussion)","provider":"Open Targets Platform"}],"fullTextIdList":["PMC3361046"]}]}