Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538
ADAMTS2 O95450 ADAM metallopeptidase with thrombospondin type 1 motif 2 Enzyme 0.97 0.579 0.808
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
ASCC1 Q8N9N2 activating signal cointegrator 1 complex subunit 1 2.6E-14 0.495 0.846
ASCL1 P50553 achaete-scute family bHLH transcription factor 1 Transcription factor 0.68 0.552 0.692
ASPA P45381 aspartoacylase 4.1E-04 0.564 0.731
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BSND Q8WZ55 barttin CLCNK type accessory subunit beta 1.1E-10 0.603 0.692
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
CAMTA1 Q9Y6Y1 calmodulin binding transcription activator 1 Transcription factor 1.00 0.599 0.615
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHAMP1 Q96JM3 chromosome alignment maintaining phosphoprotein 1 0.99 0.691 0.500
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846