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:0000568 | Microphthalmia |
HP:0000572 | Visual loss |
HP:0000589 | Coloboma |
HP:0000612 | Iris coloboma |
HP:0000639 | Nystagmus |
HP:0000648 | Optic atrophy |
HP:0000677 | Oligodontia |
HP:0000821 | Hypothyroidism |
HP:0000824 | Decreased response to growth hormone stimulation test |
HP:0000958 | Dry skin |
Disease ID | Disease Name |
---|---|
OMIM:612379 |
|
ORPHA:324737 |
|
OMIM:612713 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
110200149 | PHACI03073 | ||
101035698 | SAIBB22449 | ||
101958155 | ICTTR02164 | ||
118318277 | SCOMX04547 | ||
102442157 | MYOLU08363 | ||
117022239 | RHIFE18822 | ||
100224163 | TAEGU23558 | ||
103235668 | CHLSB16369 | ||
108531594 | RHIBE04210 | ||
104662017 | RHIRO35627 |
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Last updated: August 19, 2024