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
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769 9 21
AQP4 P55087 aquaporin 4 Ion channel 2.3E-03 0.456 0.885 6 1
AQP4-AS1 AQP4 antisense RNA 1 0.751 0.577 6 1
ASAH1 Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 1.3E-12 0.526 0.808 9 13
CDC14A Q9UNH5 cell division cycle 14A 9.6E-08 0.736 0.385 2 5
CEP78 Q5JTW2 centrosomal protein 78 6.2E-12 0.686 0.346 3 7
CHN1 P15882 chimerin 1 3.1E-02 0.573 0.615 22 11
CKMT1B P12532 creatine kinase, mitochondrial 1B Kinase 3.2E-05 0.729 0.346 7 9
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846 8 16
COL4A5 P29400 collagen type IV alpha 5 chain 1.00 0.553 0.654 22 616
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654 10 18
EDNRB P24530 endothelin receptor type B G-protein coupled receptor 9.2E-03 0.470 0.846 13 13
FZD4 Q9ULV1 frizzled class receptor 4 G-protein coupled receptor 0.97 0.490 0.923 12 8
GIPC3 Q8TF64 GIPC PDZ domain containing family member 3 Enzyme 9.3E-03 0.780 0.231 3 7
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 62 116
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538 28 2
KARS1 Q15046 lysyl-tRNA synthetase 1 Enzyme 4.2E-09 0.636 0.577 12 7
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808 26 250
LMX1A Q8TE12 LIM homeobox transcription factor 1 alpha Nucleic acid binding 0.99 0.670 0.423 1 1
MYO15A Q9UKN7 myosin XVA Cellular structure 1.3E-56 0.722 0.346 6 72
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423 17 172
PAX3 P23760 paired box 3 0.24 0.481 0.769 7 46
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 69 51