Disease: Muscle hypotonia
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
RBFOX2 O43251 RNA binding fox-1 homolog 2 Nucleic acid binding 1.00 0.590 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808