UniProt | Protein Name |
---|---|
A0A140VJL3 |
|
P00492 |
|
GO Term | Evidence Code | PMID |
---|---|---|
dopaminergic neuron differentiation | ||
hypoxanthine metabolic process | ||
positive regulation of dopamine metabolic process | ||
IMP metabolic process | ||
response to amphetamine |
GO Term | Evidence Code | PMID |
---|---|---|
hypoxanthine phosphoribosyltransferase activity | ||
magnesium ion binding | ||
protein binding | ||
guanine phosphoribosyltransferase activity | ||
nucleotide binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110748 | obsolete type 1 diabetes mellitus 9 | |
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 |
HPO ID | HPO Term |
---|---|
HP:0002149 | Hyperuricemia |
HP:0002179 | Opisthotonus |
HP:0002342 | Intellectual disability, moderate |
HP:0002421 | Poor head control |
HP:0002827 | Hip dislocation |
HP:0003149 | Hyperuricosuria |
HP:0003259 | Elevated circulating creatinine concentration |
HP:0003593 | Infantile onset |
HP:0003621 | Juvenile onset |
HP:0004322 | Short stature |
Disease ID | Disease Name |
---|---|
ORPHA:510 |
|
ORPHA:79233 |
|
OMIM:300322 |
|
OMIM:300323 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100555105 | ANOCA11715 | ||
103670322 | URSMA16091 | ||
103672979 | URSMA26214 | ||
102544742 | VICPA01860 | ||
100950751 | OTOGA05955 | ||
105732276 | AOTNA36506 | ||
101053337 | SAIBB18644 | ||
101955334 | ICTTR01046 | ||
118319434 | SCOMX06085 | ||
102441052 | MYOLU00690 |
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Last updated: August 19, 2024