Disease: Muscle hypotonia
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HIBCH Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 2.6E-13 0.700 0.500
MTRR Q9UBK8 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 2.2E-14 0.502 0.808
PTS Q03393 6-pyruvoyltetrahydropterin synthase 6.5E-06 0.636 0.654
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
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 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
ACADM P11310 acyl-CoA dehydrogenase medium chain Enzyme 2.1E-12 0.638 0.462
ACADS P16219 acyl-CoA dehydrogenase short chain 2.8E-06 0.663 0.538
ACADSB P45954 acyl-CoA dehydrogenase short/branched chain 2.7E-11 0.691 0.500
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
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
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
AP4S1 Q9Y587 adaptor related protein complex 4 subunit sigma 1 Transporter 1.7E-06 0.674 0.385
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ARL13B Q3SXY8 ADP ribosylation factor like GTPase 13B 2.7E-09 0.631 0.538
ARL3 P36405 ADP ribosylation factor like GTPase 3 1.4E-03 0.603 0.615
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808
AAAS Q9NRG9 aladin WD repeat nucleoporin 2.4E-13 0.601 0.654
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769