Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
ACAD9 Q9H845 acyl-CoA dehydrogenase family member 9 Enzyme 4.5E-08 0.722 0.269
ACADM P11310 acyl-CoA dehydrogenase medium chain Enzyme 2.1E-12 0.638 0.462
ACADVL P49748 acyl-CoA dehydrogenase very long chain Enzyme 4.2E-15 0.653 0.654
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ACY1 Q03154 aminoacylase 1 6.9E-09 0.653 0.577
AGK Q53H12 acylglycerol kinase 6.0E-09 0.650 0.654
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ALG2 Q9H553 ALG2 alpha-1,3/1,6-mannosyltransferase 8.0E-05 0.670 0.423
ARSA P15289 arylsulfatase A Enzyme 1.1E-11 0.448 0.923
ASCC1 Q8N9N2 activating signal cointegrator 1 complex subunit 1 2.6E-14 0.495 0.846
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
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