Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
AR P10275 androgen receptor Nuclear receptor 0.99 0.351 0.846
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
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 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
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
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
ARSA P15289 arylsulfatase A Enzyme 1.1E-11 0.448 0.923
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808