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:0070138 | autosomal recessive cutis laxa type IIIB | |
DOID:0070140 | autosomal recessive cutis laxa type IIC | |
DOID:0070141 | autosomal recessive cutis laxa type II classic type | |
DOID:0070142 | autosomal dominant cutis laxa | |
DOID:0080568 | congenital disorder of glycosylation Iq | |
DOID:0110213 | isolated cleft palate | |
DOID:0111531 | bilateral optic nerve hypoplasia | |
DOID:10283 | prostate cancer | |
DOID:10286 | prostate carcinoma | |
DOID:1059 | intellectual disability |
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 |
---|---|---|---|
115555643 | GADMO06331 | ||
101156806 | ORYLA12802 | ||
115590882 | SPAAU67055 | ||
379123 | Xenbase:XB-GENE-985517 | ||
108698470 | Xenbase:XB-GENE-17336642 | ||
779994 | Xenbase:XB-GENE-985511 | ||
101937467 | CHRPI35265 | ||
109322191 | CROPO11601 | ||
113435832 | PSETE06889 | ||
100409457 | CALJA28361 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024