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:0001976 | Reduced antithrombin III activity |
HP:0001999 | Abnormal facial shape |
HP:0002015 | Dysphagia |
HP:0002126 | Polymicrogyria |
HP:0002334 | Abnormal cerebellar vermis morphology |
HP:0002808 | Kyphosis |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0002942 | Thoracic kyphosis |
HP:0003186 | Inverted nipples |
HP:0003577 | Congenital onset |
Disease ID | Disease Name |
---|---|
OMIM:612379 |
|
ORPHA:324737 |
|
OMIM:612713 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
179438 | WB:WBGene00007102 | ||
34136 | FB:FBgn0032014 | ||
100181505 | CIOIN05096 | ||
102363132 | LATCH09739 | ||
560717 | ZFIN:ZDB-GENE-030131-7915 | DANRE19475 | |
103045498 | ASTMX11111 | ||
108258126 | ICTPU20131 | ||
113586386 | ELEEL36915 | ||
106584121 | SALSA84800 | ||
115192382 | SALTR28684 |
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Last updated: August 19, 2024