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
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
AR P10275 androgen receptor Nuclear receptor 0.99 0.351 0.846
VDR P11473 vitamin D receptor Nuclear receptor 1.7E-05 0.352 0.885
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FAS P25445 Fas cell surface death receptor 0.81 0.372 0.923
LMNA P02545 lamin A/C 1.00 0.384 0.885
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
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NOTCH3 Q9UM47 notch receptor 3 0.41 0.435 0.808
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 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
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
NKX2-1 P43699 NK2 homeobox 1 Transcription factor 0.36 0.457 0.808
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731