Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRNW tRNA 0.563 0.731
TRIM37 O94972 tripartite motif containing 37 9.7E-12 0.610 0.654
NDUFS3 O75489 NADH:ubiquinone oxidoreductase core subunit S3 5.8E-04 0.581 0.769
NDUFV1 P49821 NADH:ubiquinone oxidoreductase core subunit V1 6.4E-11 0.617 0.538
NDUFS4 O43181 NADH:ubiquinone oxidoreductase subunit S4 3.1E-04 0.587 0.808
NDUFV2 P19404 NADH:ubiquinone oxidoreductase core subunit V2 5.6E-03 0.610 0.500
PCYT1A P49585 phosphate cytidylyltransferase 1, choline, alpha 2.0E-05 0.485 0.885
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
PEX10 O60683 peroxisomal biogenesis factor 10 5.4E-04 0.584 0.654
PSAP P07602 prosaposin 0.99 0.532 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PEX2 P28328 peroxisomal biogenesis factor 2 2.6E-04 0.582 0.654
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
SMS P52788 spermine synthase 0.97 0.491 0.846
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808
SPTBN2 O15020 spectrin beta, non-erythrocytic 2 9.9E-05 0.619 0.731
VLDLR P98155 very low density lipoprotein receptor 2.0E-11 0.558 0.692
PCGF2 P35227 polycomb group ring finger 2 0.86 0.579 0.615
AAAS Q9NRG9 aladin WD repeat nucleoporin 2.4E-13 0.601 0.654
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
COLQ Q9Y215 collagen like tail subunit of asymmetric acetylcholinesterase 7.9E-14 0.628 0.654
HESX1 Q9UBX0 HESX homeobox 1 8.0E-04 0.561 0.654
EIF2B4 Q9UI10 eukaryotic translation initiation factor 2B subunit delta 0.96 0.659 0.538
EIF2B3 Q9NR50 eukaryotic translation initiation factor 2B subunit gamma 0.57 0.729 0.346