Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
STAT1 P42224 signal transducer and activator of transcription 1 Nucleic acid binding 1.00 0.399 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
EDNRB P24530 endothelin receptor type B G-protein coupled receptor 9.2E-03 0.470 0.846
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885