Disease: Muscle hypotonia
Source: ALL
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
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
AR P10275 androgen receptor Nuclear receptor 0.99 0.351 0.846
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
EZH2 Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 1.00 0.376 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808
TGFBR2 P37173 transforming growth factor beta receptor 2 Kinase 0.13 0.413 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
ARSA P15289 arylsulfatase A Enzyme 1.1E-11 0.448 0.923
EPCAM P16422 epithelial cell adhesion molecule 1.3E-07 0.451 0.885