Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
ARHGAP31 Q2M1Z3 Rho GTPase activating protein 31 1.00 0.581 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
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CDK8 P49336 cyclin dependent kinase 8 Kinase 0.41 0.597 0.654
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
CHD3 Q12873 chromodomain helicase DNA binding protein 3 1.00 0.670 0.577
CHD4 Q14839 chromodomain helicase DNA binding protein 4 1.00 0.593 0.654
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHST14 Q8NCH0 carbohydrate sulfotransferase 14 Enzyme 0.45 0.638 0.654
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
CLP1 Q92989 cleavage factor polyribonucleotide kinase subunit 1 Nucleic acid binding 0.20 0.700 0.385
COG6 Q9Y2V7 component of oligomeric golgi complex 6 6.4E-16 0.644 0.577
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
CPLX1 O14810 complexin 1 0.82 0.576 0.654