Disease: Generalized 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
ACY1 Q03154 aminoacylase 1 6.9E-09 0.653 0.577
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769
ALDH6A1 Q02252 aldehyde dehydrogenase 6 family member A1 Enzyme 7.6E-10 0.716 0.462
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
AP3D1 O14617 adaptor related protein complex 3 subunit delta 1 Transporter 0.99 0.678 0.385
ARFGEF2 Q9Y6D5 ADP ribosylation factor guanine nucleotide exchange factor 2 1.00 0.659 0.462
ARSA P15289 arylsulfatase A Enzyme 1.1E-11 0.448 0.923
ARV1 Q9H2C2 ARV1 homolog, fatty acid homeostasis modulator 3.6E-06 0.691 0.423
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
ATCAY Q86WG3 ATCAY kinesin light chain interacting caytaxin 0.62 0.805 0.192
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308
C19orf12 Q9NSK7 chromosome 19 open reading frame 12 0.34 0.641 0.615
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CACNA1B Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 1.00 0.650 0.577
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CC2D1A Q6P1N0 coiled-coil and C2 domain containing 1A 8.5E-03 0.628 0.462
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692