Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
RHO P08100 rhodopsin G-protein coupled receptor 1.3E-04 0.525 0.769
CHN1 P15882 chimerin 1 3.1E-02 0.573 0.615
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462
BBS4 Q96RK4 Bardet-Biedl syndrome 4 1.5E-16 0.647 0.615
PCARE A6NGG8 photoreceptor cilium actin regulator 3.0E-18 0.674 0.346
EFEMP1 Q12805 EGF containing fibulin extracellular matrix protein 1 Extracellular structure 1.00 0.540 0.769
CHM P24386 CHM Rab escort protein Enzyme 1.00 0.592 0.654