Disease: Generalized hypotonia
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
VDR P11473 vitamin D receptor Nuclear receptor 1.7E-05 0.352 0.885
EZH2 Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 1.00 0.376 0.885
LMNA P02545 lamin A/C 1.00 0.384 0.885
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
COX8A P10176 cytochrome c oxidase subunit 8A Enzyme 0.12 0.400 0.846
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
CASR P41180 calcium sensing receptor G-protein coupled receptor 4.7E-02 0.410 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
WNK1 Q9H4A3 WNK lysine deficient protein kinase 1 Kinase 1.00 0.416 0.846
SOX9 P48436 SRY-box transcription factor 9 1.00 0.419 0.846
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
DMD P11532 dystrophin 1.00 0.423 0.923
SETD2 Q9BYW2 SET domain containing 2, histone lysine methyltransferase Epigenetic regulator 1.00 0.424 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
RAC1 P63000 Rac family small GTPase 1 Enzyme modulator 0.76 0.429 0.962
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808