UniProt | Protein Name |
---|---|
O15528 |
|
GO Term | Evidence Code | PMID |
---|---|---|
response to type II interferon | ||
positive regulation of vitamin D receptor signaling pathway | ||
vitamin metabolic process |
|
|
calcium ion homeostasis | ||
response to vitamin D |
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:0110749 | type 1 diabetes mellitus 10 | |
DOID:0110750 | type 1 diabetes mellitus 11 | |
DOID:0110751 | type 1 diabetes mellitus 12 | |
DOID:0110752 | type 1 diabetes mellitus 13 | |
DOID:0110753 | type 1 diabetes mellitus 15 | |
DOID:0110754 | type 1 diabetes mellitus 17 | |
DOID:0110755 | type 1 diabetes mellitus 18 | |
DOID:0110756 | type 1 diabetes mellitus 19 | |
DOID:0110757 | type 1 diabetes mellitus 20 | |
DOID:0110758 | type 1 diabetes mellitus 21 |
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 |
---|---|---|---|
106833020 | EQUAS16531 | ||
116828443 | CHEAB02758 | ||
105307396 | PTEVA12181 | ||
115389179 | SALFA35747 | ||
105500481 | COLAP17174 | ||
105816771 | PROCO09608 | ||
103742896 | NANGA23262 | ||
116436601 | CORMO16309 | ||
103264442 | CARSF20940 | ||
108309743 | CEBIM14960 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024