Downloads:

CVS export:
One gene-disease pair can have multiple annotations of allelic requirement and mutation
consequence pairs. We export one row for each pair of allelic requirement and mutation
consequence. The header fields are:  
  - gene symbol:                  HGNC gene symbol 
  - gene mim:                     OMIM number for a gene entry
  - disease name:                 Name provided by the curator
  - disease mim:                  OMIM number for a disease entry
  - confidence category:          One of definitive, strong, moderate, limited.
  - allelic requirement:          One value from the list of possible allelic requirement attributes. Possible values are:   
                                  biallelic_autosomal, monoallelic_autosomal, monoallelic_PAR, 
                                  biallelic_PAR, mitochondrial, monoallelix_X_hem, monallelic_X_het, monoallelic_Y_hem.   
  - mutation consequence:         semicolon-separated list of possible consequences: 5_prime or 3_prime UTR mutation, 
                                  cis-regulatory or promotor mutation, absent gene product, altered gene product structure, increased gene product level, uncertain.
  - phenotypes:                   semicolon-separated list of HPO (http://www.human-phenotype-ontology.org/) IDs
  - organ specificity list:       semicolon-separated list of organs
  - pmids:                        semicolon-separated list of PMIDs 
  - panel:                        G2P panel: Cancer, Cardiac, DD, Ear, Eye or Skin
  - prev symbols:                 Symbols previously approved by the HGNC for this gene
  - hgnc id:                      HGNC identifier
  - gene disease pair entry date: Entry date for the gene disease pair into the database
  - cross cutting modifier        semi-colon separated list of possible cross cutting modifier attributes : 
                                  requires heterozygosity, typically de novo, typically mosaic, imprinted, typified by age related penetrance, typified by reduced penetrance, incomplete penetrance.
  - mutation consequences flag    One value from the list of possible flags : 
                                  likely to escape nonsense mediated decay, part of contiguous gene duplication, part of contiguous genomic interval deletion,
                                  restricted repertoire of mutations, activating, dominant negative.  
  - confidence value flag         The flag "Requires clinical review" is associated with entries rated  limited confidence - these should be reviewed with care.
  - comments                      Public comments made by our curator 
  - variant consequence           semi-colon separated list of observed variant consequences attributes :
                                  splice_region_variant, splice_acceptor_variant, splice_donor_variant, start_lost, frameshift_variant,stop_gained, stop_lost, missense_variant, 
                                  inframe_deletion, 5_prime_UTR_variant, 3_prime_UTR_variant,synonymous_variant, intron_variant, regulatory_region_variant, intergenic_variant, 
                                  inframe_insertion, NMD_triggering,
                                  NMD_escaping, stop_gained_NMD_triggering, stop_gained_NMD_escaping,splice_donor_variant_NMD_triggering, 
                                  frameshift_variant_NMD_triggering,splice_acceptor_variant_NMD_escaping, splice_acceptor_variant_NMD_triggering, splice_donor_variant_NMD_escaping, 
                                  frameshift_variant_NMD_escaping, loss_of_function_variant, gain_of_function_variant
  - disease ontology              MONDO accession               
  


These release files are generated on the fly to include the latest data. Previous data freezes, including a set from 1/12/2021 using the original terms for confidence, allelic requirement etc, are available on the G2P FTP site: http://ftp.ebi.ac.uk/pub/databases/gene2phenotype/’
The _md5.txt file has the checksum value that is used to check the integrity of the file downloaded.