Disease: Infantile muscular hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
KCNA1 Q09470 potassium voltage-gated channel subfamily A member 1 Ion channel 7.6E-02 0.573 0.577
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769
ND2 P03891 MTND2 0.601 0.615
ND3 P03897 NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
ND4 P03905 NADH dehydrogenase, subunit 4 (complex I) Enzyme 0.546 0.769
ND5 P03915 NADH dehydrogenase, subunit 5 (complex I) Enzyme 0.531 0.769
ND6 P03923 NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
NEUROD2 Q15784 neuronal differentiation 2 Enzyme 0.94 0.619 0.538
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
PIGW Q7Z7B1 phosphatidylinositol glycan anchor biosynthesis class W Enzyme 1.2E-05 0.633 0.654
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SIK1 A0A0B4J2F2 P57059 salt inducible kinase 1 Kinase 0.94 0.544 0.731