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 |
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 |
---|---|---|---|
103191415 | CALMI45533 | ||
102346327 | LATCH20124 | ||
793309 | ZFIN:ZDB-GENE-111005-2 | DANRE02378 | |
103035224 | ASTMX05345 | ||
113572450 | ELEEL12470 | ||
106583283 | SALSA83210 | ||
115150468 | SALTR32841 | ||
115207954 | SALTR37695 | ||
101172325 | ORYLA14355 | ||
115583387 | SPAAU42058 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024