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
ADGRV1 Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 3.2E-39 0.572 0.731
AHSG P02765 alpha 2-HS glycoprotein Enzyme modulator 3.2E-10 0.506 0.846
AIPL1 Q9NZN9 aryl hydrocarbon receptor interacting protein like 1 Chaperone 1.2E-05 0.644 0.346
AMMECR1 Q9Y4X0 AMMECR nuclear protein 1 0.82 0.659 0.692
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
ASPA P45381 aspartoacylase 4.1E-04 0.564 0.731
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATP8 P03928 ATP synthase F0 subunit 8 Transporter 0.666 0.615
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
BSND Q8WZ55 barttin CLCNK type accessory subunit beta 1.1E-10 0.603 0.692
BTD P43251 biotinidase Enzyme 1.5E-07 0.628 0.654