Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ACTL6A O96019 actin like 6A Cellular structure 1.00 0.678 0.346 13 1
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462 37 3
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654 25 25
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692 8 1
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500 17 14
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808 30 12
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808 19 10
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692 43 6
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615 44 57
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615 15 7
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
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500 16 3
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 57 70
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538 16 10
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538 28 7
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769 19 14
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692 100 7
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692 37 171
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577 8 49
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731 69 38