Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ANK3 Q12955 ankyrin 3 1.00 0.578 0.654
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
DMD P11532 dystrophin 1.00 0.423 0.923
DOCK3 Q8IZD9 dedicator of cytokinesis 3 1.00 0.619 0.692
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
EZH2 Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 1.00 0.376 0.885
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
GRID2 O43424 glutamate ionotropic receptor delta type subunit 2 Ion channel 1.00 0.670 0.500
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731