Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
USP19 O94966 ubiquitin specific peptidase 19 Enzyme 1.00 0.751 0.346 1 5
UGDH O60701 UDP-glucose 6-dehydrogenase 6.8E-04 0.678 0.615 1 1
FOLR1 P15328 folate receptor alpha 0.13 0.522 0.885 2 5
CPEB1-AS1 CPEB1 antisense RNA 1 0.931 0.038 2 5
AP3B2 Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 0.77 0.691 0.346 2 5
WASF1 Q92558 WASP family member 1 Cellular structure 1.00 0.547 0.808 2 3
HCN1 O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 1.00 0.564 0.654 3 9
TRIT1 Q9H3H1 tRNA isopentenyltransferase 1 Enzyme 4.1E-11 0.621 0.692 3 4
CACNA2D2 Q9NY47 calcium voltage-gated channel auxiliary subunit alpha2delta 2 Ion channel 1.00 0.626 0.615 3 4
PHGDH O43175 phosphoglycerate dehydrogenase Enzyme 1.3E-04 0.484 0.885 4 12
SLC25A10 Q9UBX3 solute carrier family 25 member 10 Transporter 5.9E-10 0.666 0.500 4 1
VARS1 P26640 valyl-tRNA synthetase 1 1.8E-08 0.711 0.500 5 15
CDK2AP1 O14519 cyclin dependent kinase 2 associated protein 1 Enzyme modulator 0.45 0.656 0.538 5 8
C12orf65 Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 0.21 0.678 0.346 5 8
SPTAN1 Q13813 spectrin alpha, non-erythrocytic 1 1.00 0.601 0.615 7 18
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654 7 16
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615 7 14
ATP7B P35670 ATPase copper transporting beta Transporter 4.8E-30 0.529 0.654 10 223
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808 10 17
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692 11 16
CIZ1 Q9ULV3 CDKN1A interacting zinc finger protein 1 6.3E-02 0.617 0.500 11 3
KCNB1 Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 1.00 0.650 0.462 12 31
GABRA1 P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 0.91 0.563 0.577 12 12
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769 12 9