Disease: Muscle 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
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
AMMECR1 Q9Y4X0 AMMECR nuclear protein 1 0.82 0.659 0.692
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
APC2 O95996 APC regulator of WNT signaling pathway 2 1.00 0.582 0.654
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
ARL13B Q3SXY8 ADP ribosylation factor like GTPase 13B 2.7E-09 0.631 0.538
ARL3 P36405 ADP ribosylation factor like GTPase 3 1.4E-03 0.603 0.615
ARMC9 Q7Z3E5 armadillo repeat containing 9 6.2E-17 0.612 0.731
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATIC P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 3.0E-19 0.576 0.731
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
B9D1 Q9UPM9 B9 domain containing 1 Extracellular structure 2.8E-03 0.572 0.692
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
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
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
CAMTA1 Q9Y6Y1 calmodulin binding transcription activator 1 Transcription factor 1.00 0.599 0.615