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
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
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
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
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
CHAMP1 Q96JM3 chromosome alignment maintaining phosphoprotein 1 0.99 0.691 0.500
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
CHMP1A Q9HD42 charged multivesicular body protein 1A 2.9E-04 0.695 0.500
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846