UniProt | Protein Name |
---|---|
Q9H8P0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
androgen biosynthetic process |
|
|
dolichol metabolic process | ||
polyprenol catabolic process | ||
dolichol-linked oligosaccharide biosynthetic process | ||
dolichol biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | ||
polyprenol reductase activity | ||
3-oxo-5-alpha-steroid 4-dehydrogenase activity | ||
3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) |
DO ID | Disease Name | Source |
---|---|---|
DOID:2452 | thrombophilia | |
DOID:2481 | obsolete infantile epileptic encephalopathy | |
DOID:2723 | dermatitis | |
DOID:2725 | capillary hemangioma | |
DOID:2732 | Rothmund-Thomson syndrome | |
DOID:2786 | cerebellar disease | |
DOID:3144 | cutis laxa | |
DOID:3390 | palmoplantar keratosis | |
DOID:3755 | antithrombin III deficiency | |
DOID:3756 | protein C deficiency |
HPO ID | HPO Term |
---|---|
HP:0001257 | Spasticity |
HP:0001263 | Global developmental delay |
HP:0001270 | Motor delay |
HP:0001272 | Cerebellar atrophy |
HP:0001317 | Abnormal cerebellum morphology |
HP:0001320 | Cerebellar vermis hypoplasia |
HP:0001508 | Failure to thrive |
HP:0001595 | Abnormal hair morphology |
HP:0001928 | Abnormality of coagulation |
HP:0001935 | Microcytic anemia |
Disease ID | Disease Name |
---|---|
OMIM:612379 |
|
ORPHA:324737 |
|
OMIM:612713 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100604898 | NOMLE37367 | ||
114603835 | PODMU29949 | ||
107573990 | SINGR100821 | ||
106836922 | EQUAS24658 | ||
116826032 | CHEAB26974 | ||
115042353 | ECHNA35844 | ||
115381608 | SALFA43632 | ||
854762 | SGD:S000001311 | ||
103734389 | NANGA00864 | ||
116444571 | CORMO22058 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024