Disease ID | Disease name | Source of annotation with WDPCP | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
217085 | CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | WDPCP |
PS209900 | BARDET-BIEDL SYNDROME | ClinVar, OMIM | link to OMIM | 23 | ARL6, BBS7, KIF7, BBS12, BBS2, BBIP1, TMEM67, LZTFL1, BBS4, TRIM32, MKKS, CCDC28B, WDPCP, CEP290, BBS9, TTC8, BBS10, TTC21B, BBS5, IFT27, MKS1, BBS1, SDCCAG8 |
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