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:0000007 | Autosomal recessive inheritance |
HP:0000248 | Brachycephaly |
HP:0000316 | Hypertelorism |
HP:0000329 | Facial hemangioma |
HP:0000365 | Hearing impairment |
HP:0000369 | Low-set ears |
HP:0000414 | Bulbous nose |
HP:0000431 | Wide nasal bridge |
HP:0000510 | Rod-cone dystrophy |
HP:0000518 | Cataract |
Disease ID | Disease Name |
---|---|
OMIM:612379 |
|
ORPHA:324737 |
|
OMIM:612713 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
105591982 | CERAT35365 | ||
102135568 | MACFA34126 | ||
696381 | MACMU36210 | ||
105463533 | MACNE07392 | ||
101018670 | PAPAN26895 | ||
101127484 | GORGO30693 | ||
100987485 | PANPA30475 | ||
471241 | PANTR33958 | ||
100461714 | PONAB27944 | ||
123804043 | URSAM14626 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024