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:0003593 | Infantile onset |
HP:0003642 | Type I transferrin isoform profile |
HP:0004322 | Short stature |
HP:0005107 | Abnormal sacrum morphology |
HP:0005280 | Depressed nasal bridge |
HP:0005585 | Spotty hyperpigmentation |
HP:0006380 | Knee flexion contracture |
HP:0007766 | Optic disc hypoplasia |
HP:0008064 | Ichthyosis |
HP:0008947 | Infantile muscular hypotonia |
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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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024