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:0060870 | isolated growth hormone deficiency | |
DOID:0070129 | autosomal recessive cutis laxa type IID | |
DOID:0070130 | autosomal dominant cutis laxa 1 | |
DOID:0070131 | autosomal dominant cutis laxa 3 | |
DOID:0070132 | autosomal recessive cutis laxa type IIIA | |
DOID:0070133 | autosomal recessive cutis laxa type IB | |
DOID:0070134 | autosomal recessive cutis laxa type IIA | |
DOID:0070135 | autosomal recessive cutis laxa type IA | |
DOID:0070136 | autosomal dominant cutis laxa 2 | |
DOID:0070137 | autosomal recessive cutis laxa type IIB |
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 |
---|---|---|---|
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