Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
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
ANK3 Q12955 ankyrin 3 1.00 0.578 0.654
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
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
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
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
BCL11A Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 0.97 0.541 0.769
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
BDNF-AS BDNF antisense RNA 0.638 0.538
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRPF1 P55201 bromodomain and PHD finger containing 1 1.00 0.686 0.385
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
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577