{"nextCursorMark":131.67610865,"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. 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