Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846 11 54
ARL2BP Q9Y2Y0 ADP ribosylation factor like GTPase 2 binding protein 3.3E-05 0.647 0.654 3 3
ARL6 Q9H0F7 ADP ribosylation factor like GTPase 6 1.0E-02 0.636 0.462 13 8
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
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538 27 94
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462 13 38
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654 22 50
BBS4 Q96RK4 Bardet-Biedl syndrome 4 1.5E-16 0.647 0.615 10 20
BBS5 Q8N3I7 Bardet-Biedl syndrome 5 4.8E-06 0.659 0.577 10 16
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577 21 23
BEST1 O76090 bestrophin 1 Ion channel 1.8E-12 0.465 0.885 11 52
C8orf37-AS1 C8orf37 antisense RNA 1 0.821 0.154 4 8
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769 13 61
CDHR1 Q96JP9 cadherin related family member 1 2.8E-21 0.670 0.308 5 8
CA4 P22748 carbonic anhydrase 4 7.1E-06 0.674 0.577 2 3
CDH23-AS1 CDH23 antisense RNA 1 0.839 0.192 5 3
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 41 96
CERKL Q49MI3 ceramide kinase like 9.8E-25 0.678 0.308 12 17
CHM P24386 CHM Rab escort protein Enzyme 1.00 0.592 0.654 6 18
C8orf37 Q96NL8 chromosome 8 open reading frame 37 2.4E-05 0.628 0.538 4 8
CFAP410 O43822 cilia and flagella associated protein 410 3.3E-07 0.633 0.615 4 10
CLRN1 P58418 clarin 1 1.7E-08 0.633 0.423 7 26
CLN3 Q13286 CLN3 lysosomal/endosomal transmembrane protein, battenin Transporter 1.3E-07 0.572 0.692 4 74