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: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 |
---|---|---|---|
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