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
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692 100 7
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731 83 60
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731 58 15
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654 54 14
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615 51 6
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846 49 61
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615 38 11
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692 37 171
ABCD1 P33897 ATP binding cassette subfamily D member 1 Transporter 1.00 0.563 0.731 37 82
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846 36 7
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731 34 11
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808 33 79
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769 32 74
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769 31 10
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731 30 148
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 28 41
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808 27 61
HEXA P06865 hexosaminidase subunit alpha Enzyme 1.3E-11 0.633 0.615 26 109
SGSH P51688 N-sulfoglucosamine sulfohydrolase Enzyme 1.0E-04 0.638 0.692 24 51