Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769
ADAMTS2 O95450 ADAM metallopeptidase with thrombospondin type 1 motif 2 Enzyme 0.97 0.579 0.808
ADGRV1 Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 3.2E-39 0.572 0.731
AGK Q53H12 acylglycerol kinase 6.0E-09 0.650 0.654
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ALDH3A2 P51648 aldehyde dehydrogenase 3 family member A2 9.4E-06 0.619 0.769
AMMECR1 Q9Y4X0 AMMECR nuclear protein 1 0.82 0.659 0.692
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
B3GALT6 Q96L58 beta-1,3-galactosyltransferase 6 2.3E-02 0.631 0.615
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BTD P43251 biotinidase Enzyme 1.5E-07 0.628 0.654
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHST14 Q8NCH0 carbohydrate sulfotransferase 14 Enzyme 0.45 0.638 0.654
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808