Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 69 51
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 62 116
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615 51 6
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 36 77
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577 31 68
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654 30 9
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692 29 59
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538 28 2
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808 26 250
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846 24 29
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385 24 3
COL4A5 P29400 collagen type IV alpha 5 chain 1.00 0.553 0.654 22 616
CHN1 P15882 chimerin 1 3.1E-02 0.573 0.615 22 11
TRNL1 tRNA 0.534 0.731 22 11
POLR2F P61218 RNA polymerase II subunit F Enzyme 1.3E-02 0.722 0.308 20 40
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385 20 14
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808 19 38
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423 17 172
EDNRB P24530 endothelin receptor type B G-protein coupled receptor 9.2E-03 0.470 0.846 13 13
PRSS23 O95084 serine protease 23 Enzyme 1.9E-05 0.722 0.346 12 8
FZD4 Q9ULV1 frizzled class receptor 4 G-protein coupled receptor 0.97 0.490 0.923 12 8
KARS1 Q15046 lysyl-tRNA synthetase 1 Enzyme 4.2E-09 0.636 0.577 12 7
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731 11 25
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654 10 18