Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731 8 8
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538 27 94
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 6 19
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577 4 14
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769 1 1
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769 73 10
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769 13 61
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731 3 17
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 57 70
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808 13 47
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654 10 20
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769 5 9
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846 13 9
CHMP1A Q9HD42 charged multivesicular body protein 1A 2.9E-04 0.695 0.500 4 4
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808 48 209
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692 5 14
CHD4 Q14839 chromodomain helicase DNA binding protein 4 1.00 0.593 0.654 3 8
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 77 192
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577 9 17
C10orf105 Q8TEF2 chromosome 10 open reading frame 105 8.4E-02 0.861 0.231 5 10
CHAMP1 Q96JM3 chromosome alignment maintaining phosphoprotein 1 0.99 0.691 0.500 4 7
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692 10 83
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769 5 7