PS256100 | NEPHRONOPHTHISIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 15 | NPHP3, XPNPEP3, NEK8, TTC21B, DCDC2, TMEM67, WDR19, ZNF423, CEP164, NPHP4, ANKS6, NPHP1, INVS, GLIS2, CEP83 |
PS208500 | SHORT-RIB THORACIC DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | CEP120, DYNC2H1, IFT80, IFT172, EVC, KIAA0586, IFT140, TTC21B, EVC2, WDR35, WDR19, WDR34, WDR60, NEK1 |
PS209900 | BARDET-BIEDL SYNDROME | HUMSAVAR | 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 |