Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
TRNF tRNA 0.582 0.731
TRNL1 tRNA 0.534 0.731
TRNW tRNA 0.563 0.731
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
SACS Q9NZJ4 sacsin molecular chaperone 1.1E-23 0.606 0.654
MAN2B1 O00754 mannosidase alpha class 2B member 1 4.8E-22 0.674 0.462
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
TOE1 Q96GM8 target of EGR1, exonuclease Nucleic acid binding 6.0E-16 0.682 0.462