Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 86 26
STAT1 P42224 signal transducer and activator of transcription 1 Nucleic acid binding 1.00 0.399 0.885 29 31
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 61 61
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846 12 6
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 150 336
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885 47 887
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 62 116
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846 14 22
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808 12 72
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846 8 14
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808 76 33
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808 21 26
EDNRB P24530 endothelin receptor type B G-protein coupled receptor 9.2E-03 0.470 0.846 13 13
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808 39 371
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 57 70
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846 45 34
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808 25 24
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769 24 31
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769 54 237
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692 48 32