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
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
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
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
ASPA P45381 aspartoacylase 4.1E-04 0.564 0.731
ATIC P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 3.0E-19 0.576 0.731
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
B4GAT1 O43505 beta-1,4-glucuronyltransferase 1 6.9E-03 0.590 0.538
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CRB1 P82279 crumbs cell polarity complex component 1 5.6E-16 0.570 0.654
CRX O43186 cone-rod homeobox Transcription factor 0.51 0.565 0.692
FAS P25445 Fas cell surface death receptor 0.81 0.372 0.923
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FHL1 Q13642 four and a half LIM domains 1 0.97 0.532 0.731
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731