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:0010864 | Intellectual disability, severe |
HP:0012443 | Abnormal brain morphology |
HP:0012471 | Thick vermilion border |
HP:0030680 | Abnormal cardiovascular system morphology |
Disease ID | Disease Name |
---|---|
OMIM:612379 |
|
ORPHA:324737 |
|
OMIM:612713 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
57357 | MGI:1930252 | MOUSE44181 | |
305291 | RGD:1308828 | RATNO07769 | |
100727041 | CAVPO11340 | ||
101565973 | OCTDE04394 | ||
100017228 | MONDO27291 | ||
100551938 | ANOCA07540 | ||
114023872 | VOMUR02575 | ||
113894297 | BOBOX04409 | ||
100962186 | OTOGA08016 | ||
105709293 | AOTNA14290 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024