Disease: Generalized hypotonia
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GBE1 Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 1.1E-12 0.612 0.654
HIBCH Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 2.6E-13 0.700 0.500
ATIC P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 3.0E-19 0.576 0.731
MTRR Q9UBK8 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 2.2E-14 0.502 0.808
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
ACP2 P11117 acid phosphatase 2, lysosomal Enzyme 6.2E-05 0.780 0.346
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
ACADVL P49748 acyl-CoA dehydrogenase very long chain Enzyme 4.2E-15 0.653 0.654
AGK Q53H12 acylglycerol kinase 6.0E-09 0.650 0.654
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
ADCY6 O43306 adenylate cyclase 6 5.8E-03 0.729 0.500
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
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
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
ALG12 Q9BV10 ALG12 alpha-1,6-mannosyltransferase Enzyme 1.2E-07 0.705 0.500
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577