Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
ALDH3A2 P51648 aldehyde dehydrogenase 3 family member A2 9.4E-06 0.619 0.769
IDUA P35475 alpha-L-iduronidase Enzyme 3.8E-13 0.499 0.846
AR P10275 androgen receptor Nuclear receptor 0.99 0.351 0.846
ANOS1 P23352 anosmin 1 1.00 0.537 0.769
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ARMC9 Q7Z3E5 armadillo repeat containing 9 6.2E-17 0.612 0.731
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
CASR P41180 calcium sensing receptor G-protein coupled receptor 4.7E-02 0.410 0.846
CPS1 P31327 carbamoyl-phosphate synthase 1 Enzyme 1.1E-09 0.590 0.615
CA8 P35219 carbonic anhydrase 8 8.3E-03 0.595 0.654
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
CTNND2 Q9UQB3 catenin delta 2 Cellular structure 1.00 0.579 0.731
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CLN8 Q9UBY8 CLN8 transmembrane ER and ERGIC protein 3.6E-03 0.682 0.423