Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 36 77
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846 8 16
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 62 116
PRKCB P05771 protein kinase C beta Kinase 1.00 0.453 0.885 1 1
AQP4 P55087 aquaporin 4 Ion channel 2.3E-03 0.456 0.885 6 1
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808 19 38
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808 26 250
EDNRB P24530 endothelin receptor type B G-protein coupled receptor 9.2E-03 0.470 0.846 13 13
PAX3 P23760 paired box 3 0.24 0.481 0.769 7 46
FZD4 Q9ULV1 frizzled class receptor 4 G-protein coupled receptor 0.97 0.490 0.923 12 8
ASAH1 Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 1.3E-12 0.526 0.808 9 13
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769 9 21
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846 24 29
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692 29 59
TRNL1 tRNA 0.534 0.731 22 11
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 69 51
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
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731 11 25
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423 17 172
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654 30 9
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577 31 68
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654 10 18
KARS1 Q15046 lysyl-tRNA synthetase 1 Enzyme 4.2E-09 0.636 0.577 12 7