Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 150 336
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 78 76
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 77 192
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808 76 33
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769 76 18
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846 70 13
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 62 116
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 60 39
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 48 393
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769 46 163
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 46 99
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577 45 38
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692 41 324
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769 37 23
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
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731 31 10
HEXA P06865 hexosaminidase subunit alpha Enzyme 1.3E-11 0.633 0.615 26 109
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654 26 1
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808 25 24
SGSH P51688 N-sulfoglucosamine sulfohydrolase Enzyme 1.0E-04 0.638 0.692 24 51