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
ACADL P28330 acyl-CoA dehydrogenase long chain Enzyme 1.7E-12 0.736 0.462
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
ACOT1 Q86TX2 acyl-CoA thioesterase 1 6.4E-05 0.780 0.192
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
ALG2 Q9H553 ALG2 alpha-1,3/1,6-mannosyltransferase 8.0E-05 0.670 0.423
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
AP3D1 O14617 adaptor related protein complex 3 subunit delta 1 Transporter 0.99 0.678 0.385
ATPAF2 Q8N5M1 ATP synthase mitochondrial F1 complex assembly factor 2 2.2E-09 0.729 0.423
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BOLA3 Q53S33 bolA family member 3 0.15 0.760 0.231
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
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
CASR P41180 calcium sensing receptor G-protein coupled receptor 4.7E-02 0.410 0.846
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
CCDC115 Q96NT0 coiled-coil domain containing 115 1.2E-07 0.743 0.308
CD96 P40200 CD96 molecule 1.4E-11 0.592 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CLCN7 P51798 chloride voltage-gated channel 7 Ion channel 0.27 0.590 0.731