Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385 20 14
ADGRB2 O60241 adhesion G protein-coupled receptor B2 G-protein coupled receptor 1.00 0.890 0.192 8 1
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577 21 23
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808 13 47
CAPN1 P07384 calpain 1 Enzyme 5.9E-10 0.539 0.808 25 4
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654 10 20
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 41 96
CLCN7 P51798 chloride voltage-gated channel 7 Ion channel 0.27 0.590 0.731 7 10
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385 10 31
COL18A1 P39060 collagen type XVIII alpha 1 chain 1.7E-10 0.449 0.808 7 14
CNGA3 Q16281 cyclic nucleotide gated channel subunit alpha 3 Ion channel 8.0E-20 0.650 0.154 11 27
CNGB3 Q9NQW8 cyclic nucleotide gated channel subunit beta 3 Ion channel 7.8E-19 0.633 0.192 11 99
DIMT1 Q9UNQ2 DIMT1 rRNA methyltransferase and ribosome maturation factor 3.9E-07 0.760 0.385 17 4
ELP4 Q96EB1 elongator acetyltransferase complex subunit 4 1.2E-07 0.666 0.462 12 9
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577 19 2
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846 36 19
FLG-AS1 FLG antisense RNA 1 0.700 0.538 37 21
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692 46 51
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731 34 11
GPR143 P51810 G protein-coupled receptor 143 G-protein coupled receptor 0.93 0.659 0.385 6 10
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615 23 97
GUCY2D Q02846 guanylate cyclase 2D, retinal Kinase 6.5E-10 0.570 0.769 11 25
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692 68 3