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
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 6 19
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
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
C10orf105 Q8TEF2 chromosome 10 open reading frame 105 8.4E-02 0.861 0.231 5 10
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 57 70
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731 3 17
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808 13 47
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808 5 6
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846 13 9
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769 13 61
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692 100 7
CHAMP1 Q96JM3 chromosome alignment maintaining phosphoprotein 1 0.99 0.691 0.500 4 7
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
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808 48 209
CHMP1A Q9HD42 charged multivesicular body protein 1A 2.9E-04 0.695 0.500 4 4
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692 5 14
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654 10 20
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769 5 7
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846 20 17
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846 8 16