Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
REV3L O60673 REV3 like, DNA directed polymerase zeta catalytic subunit 1.00 0.588 0.654
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
KCNJ13 O60928 potassium inwardly rectifying channel subfamily J member 13 Ion channel 1.4E-02 0.659 0.308
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
NDUFS7 O75251 NADH:ubiquinone oxidoreductase core subunit S7 0.91 0.579 0.769
NDUFS2 O75306 NADH:ubiquinone oxidoreductase core subunit S2 Enzyme 1.4E-03 0.601 0.654
GPC4 O75487 glypican 4 0.93 0.547 0.769
NDUFS3 O75489 NADH:ubiquinone oxidoreductase core subunit S3 5.8E-04 0.581 0.769
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
SC5D O75845 sterol-C5-desaturase Enzyme 2.6E-03 0.641 0.577
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
LRAT O95237 lecithin retinol acyltransferase 2.8E-02 0.608 0.654
NDUFA10 O95299 NADH:ubiquinone oxidoreductase subunit A10 Enzyme 6.2E-08 0.678 0.385
PEX11B O96011 peroxisomal biogenesis factor 11 beta 1.3E-04 0.612 0.654
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
INS P01308 insulin 0.30 0.445 0.923
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
LMNA P02545 lamin A/C 1.00 0.384 0.885