Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577 45 38
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692 41 324
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 41 96
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731 31 13
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769 30 247
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692 29 61
ZDHHC24 Q6UX98 zinc finger DHHC-type containing 24 4.2E-04 0.722 0.462 29 37
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538 27 94
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654 22 50
RHO P08100 rhodopsin G-protein coupled receptor 1.3E-04 0.525 0.769 22 49
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577 21 23
TULP1 O00294 TUB like protein 1 5.7E-04 0.623 0.462 19 12
PRPH2 P23942 peripherin 2 0.12 0.551 0.500 18 37
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423 17 172
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769 13 61
RPGR Q92834 retinitis pigmentosa GTPase regulator 1.00 0.536 0.692 13 49
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462 13 38
ARL6 Q9H0F7 ADP ribosylation factor like GTPase 6 1.0E-02 0.636 0.462 13 8
SCAPER Q9BY12 S-phase cyclin A associated protein in the ER 8.8E-03 0.653 0.500 13 6
RPGRIP1 Q96KN7 RPGR interacting protein 1 Enzyme modulator 1.3E-23 0.553 0.654 12 34
PANK2 Q9BZ23 pantothenate kinase 2 Kinase 7.4E-07 0.559 0.808 12 31
PROM1 O43490 prominin 1 Transporter 1.9E-22 0.410 0.846 12 23
CERKL Q49MI3 ceramide kinase like 9.8E-25 0.678 0.308 12 17
CNGB3 Q9NQW8 cyclic nucleotide gated channel subunit beta 3 Ion channel 7.8E-19 0.633 0.192 11 99