Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538
ACADS P16219 acyl-CoA dehydrogenase short chain 2.8E-06 0.663 0.538
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ADGRV1 Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 3.2E-39 0.572 0.731
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
ALG6 Q9Y672 ALG6 alpha-1,3-glucosyltransferase Enzyme 3.1E-04 0.805 0.231
ALPL P05186 alkaline phosphatase, biomineralization associated Enzyme 3.6E-04 0.546 0.769
AMT P48728 aminomethyltransferase 2.7E-03 0.674 0.692
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
AR P10275 androgen receptor Nuclear receptor 0.99 0.351 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARSA P15289 arylsulfatase A Enzyme 1.1E-11 0.448 0.923
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASCL1 P50553 achaete-scute family bHLH transcription factor 1 Transcription factor 0.68 0.552 0.692
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BCL11A Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 0.97 0.541 0.769