Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
ZDHHC24 Q6UX98 zinc finger DHHC-type containing 24 4.2E-04 0.722 0.462
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769
SMO Q99835 smoothened, frizzled class receptor G-protein coupled receptor 4.3E-07 0.489 0.731
EVC P57679 EvC ciliary complex subunit 1 3.5E-25 0.587 0.577
CRMP1 Q14194 collapsin response mediator protein 1 Enzyme 0.99 0.525 0.808
TMEM231 Q9H6L2 transmembrane protein 231 3.1E-07 0.554 0.692
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462
HOXD13 P35453 homeobox D13 8.6E-03 0.483 0.808
BBS4 Q96RK4 Bardet-Biedl syndrome 4 1.5E-16 0.647 0.615
TXNDC15 Q96J42 thioredoxin domain containing 15 9.6E-03 0.736 0.615
B9D1 Q9UPM9 B9 domain containing 1 Extracellular structure 2.8E-03 0.572 0.692
PIGX Q8TBF5 phosphatidylinositol glycan anchor biosynthesis class X 2.4E-05 0.780 0.308
CEP19 Q96LK0 centrosomal protein 19 1.6E-02 0.729 0.346
FAM98C Q17RN3 family with sequence similarity 98 member C 1.1E-07 0.931 0.115
TRAPPC3 O43617 trafficking protein particle complex 3 0.25 0.792 0.385
DYNC2LI1 Q8TCX1 dynein cytoplasmic 2 light intermediate chain 1 Cellular structure 3.2E-09 0.601 0.500
WNT10B O00744 Wnt family member 10B Signaling 3.6E-04 0.576 0.654