Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
AMMECR1 Q9Y4X0 AMMECR nuclear protein 1 0.82 0.659 0.692
PLXND1 Q9Y4D7 plexin D1 1.00 0.647 0.577
TPRKB Q9Y3C4 TP53RK binding protein 8.2E-03 0.691 0.385
LEMD3 Q9Y2U8 LEM domain containing 3 1.00 0.582 0.731
PIGL Q9Y2B2 phosphatidylinositol glycan anchor biosynthesis class L 6.2E-09 0.581 0.731
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
LIPT1 Q9Y234 lipoyltransferase 1 Enzyme 3.8E-08 0.674 0.462
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
PLAGL1 Q9UM63 PLAG1 like zinc finger 1 0.98 0.566 0.769
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
KCNE5 Q9UJ90 potassium voltage-gated channel subfamily E regulatory subunit 5 0.12 0.666 0.500
NDUFA12 Q9UI09 NADH:ubiquinone oxidoreductase subunit A12 7.4E-05 0.659 0.462
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
SPATA7 Q9P0W8 spermatogenesis associated 7 5.2E-13 0.656 0.385
NDUFA13 Q9P0J0 NADH:ubiquinone oxidoreductase subunit A13 Enzyme 3.8E-06 0.556 0.692
NDUFAF4 Q9P032 NADH:ubiquinone oxidoreductase complex assembly factor 4 0.55 0.686 0.385
AIPL1 Q9NZN9 aryl hydrocarbon receptor interacting protein like 1 Chaperone 1.2E-05 0.644 0.346
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769
NDUFB11 Q9NX14 NADH:ubiquinone oxidoreductase subunit B11 Enzyme 0.80 0.566 0.692
RMND1 Q9NWS8 required for meiotic nuclear division 1 homolog 1.1E-09 0.674 0.462
FKBP14 Q9NWM8 FKBP prolyl isomerase 14 1.5E-06 0.650 0.654
PIGV Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 1.5E-08 0.636 0.615