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
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ALG3 Q92685 ALG3 alpha-1,3- mannosyltransferase Enzyme 3.7E-10 0.644 0.500
ARHGAP31 Q2M1Z3 Rho GTPase activating protein 31 1.00 0.581 0.615
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BCKDHA P12694 branched chain keto acid dehydrogenase E1 subunit alpha 9.8E-09 0.695 0.423
BCKDHB P21953 branched chain keto acid dehydrogenase E1 subunit beta Enzyme 4.3E-09 0.682 0.500
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BTD P43251 biotinidase Enzyme 1.5E-07 0.628 0.654
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
DBT P11182 dihydrolipoamide branched chain transacylase E2 Enzyme 1.0E-05 0.638 0.462
DCX O43602 doublecortin 0.30 0.511 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DMPK Q09013 DM1 protein kinase Kinase 3.8E-02 0.603 0.692
DPAGT1 Q9H3H5 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Enzyme 1.1E-05 0.621 0.538
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EIF2AK3 Q9NZJ5 eukaryotic translation initiation factor 2 alpha kinase 3 Kinase 2.8E-03 0.501 0.808
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731