Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
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
ALS2 Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 8.7E-12 0.647 0.423
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
ASCC1 Q8N9N2 activating signal cointegrator 1 complex subunit 1 2.6E-14 0.495 0.846
ASPA P45381 aspartoacylase 4.1E-04 0.564 0.731
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
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
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577