UniProt | Protein Name |
---|---|
O15528 |
|
GO Term | Evidence Code | PMID |
---|---|---|
vitamin D catabolic process | ||
vitamin D metabolic process | ||
regulation of bone mineralization | ||
positive regulation of keratinocyte differentiation | ||
calcitriol biosynthetic process from calciol |
GO Term | Evidence Code | PMID |
---|---|---|
cytoplasm | ||
mitochondrial outer membrane |
|
|
mitochondrion |
GO Term | Evidence Code | PMID |
---|---|---|
iron ion binding | ||
secalciferol 1-monooxygenase activity | ||
calcidiol 1-monooxygenase activity | ||
heme binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050336 | hypophosphatemia | |
DOID:0050387 | nonpapillary renal cell carcinoma | |
DOID:0050445 | X-linked dominant hypophosphatemic rickets | |
DOID:0050459 | hyperphosphatemia | |
DOID:0050486 | exanthem | |
DOID:0050589 | inflammatory bowel disease | |
DOID:0050700 | cardiomyopathy | |
DOID:0050801 | androgenic alopecia | |
DOID:0050865 | tongue squamous cell carcinoma | |
DOID:0060058 | lymphoma |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000684 | Delayed eruption of teeth |
HP:0000737 | Irritability |
HP:0000867 | Secondary hyperparathyroidism |
HP:0000886 | Deformed rib cage |
HP:0000893 | Bulging of the costochondral junction |
HP:0000897 | Rachitic rosary |
HP:0000920 | Enlargement of the costochondral junction |
HP:0001252 | Hypotonia |
HP:0001270 | Motor delay |
Disease ID | Disease Name |
---|---|
OMIM:264700 |
|
ORPHA:289157 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
397055 | PIGXX25705 | ||
539630 | BOVIN29534 | ||
102170758 | CAPHI24772 | ||
100341053 | RABIT14528 | ||
105990140 | DIPOR01220 | ||
100760414 | CRIGR16847 | ||
13115 | MGI:1098274 | MOUSE00710 | |
114700 | RGD:69192 | RATNO37965 | |
100717678 | CAVPO05777 | ||
100031497 | MONDO00467 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024