Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACADVL P49748 acyl-CoA dehydrogenase very long chain Enzyme 4.2E-15 0.653 0.654
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
AGK Q53H12 acylglycerol kinase 6.0E-09 0.650 0.654
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
AR P10275 androgen receptor Nuclear receptor 0.99 0.351 0.846
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ATPAF2 Q8N5M1 ATP synthase mitochondrial F1 complex assembly factor 2 2.2E-09 0.729 0.423
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
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
CA8 P35219 carbonic anhydrase 8 8.3E-03 0.595 0.654
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CASR P41180 calcium sensing receptor G-protein coupled receptor 4.7E-02 0.410 0.846
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
COA6 Q5JTJ3 cytochrome c oxidase assembly factor 6 5.7E-03 0.805 0.192
COA8 Q96IL0 cytochrome c oxidase assembly factor 8 2.1E-04 0.682 0.538
COG7 P83436 component of oligomeric golgi complex 7 2.6E-07 0.686 0.500
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885
COX10 Q12887 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 Enzyme 8.4E-02 0.623 0.654