UniProt ID | Protein Name | Source |
---|---|---|
P60891 | Ribose-phosphate pyrophosphokinase 1 |
HPO ID | HPO Term |
---|---|
HP:0001251 | Ataxia |
HP:0011185 | EEG with focal epileptiform discharges |
HP:0001324 | Muscle weakness |
HP:0003537 | Hypouricemia |
HP:0000467 | Neck muscle weakness |
HP:0002445 | Tetraplegia |
HP:0007377 | Abnormality of somatosensory evoked potentials |
HP:0000648 | Optic atrophy |
HP:0009830 | Peripheral neuropathy |
HP:0001284 | Areflexia |
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Last updated: August 19, 2024