thymidine phosphorylase
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrial genome maintenance | ||
| angiogenesis | ||
| pyrimidine nucleobase metabolic process | ||
| pyrimidine nucleoside metabolic process | ||
| pyrimidine nucleoside metabolic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| 1,4-alpha-oligoglucan phosphorylase activity | ||
| protein binding | ||
| growth factor activity | ||
| thymidine phosphorylase activity | ||
| thymidine phosphorylase activity |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080119 | mitochondrial DNA depletion syndrome 1 | |
| DOID:1793 | pancreatic cancer | |
| DOID:2671 | transitional cell carcinoma | |
| DOID:3908 | lung non-small cell carcinoma | |
| DOID:890 | mitochondrial encephalomyopathy |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000508 | Ptosis |
| HP:0000544 | External ophthalmoplegia |
| HP:0000590 | Progressive external ophthalmoplegia |
| HP:0000597 | Ophthalmoparesis |
| HP:0000651 | Diplopia |
| HP:0000726 | Dementia |
| HP:0000815 | Hypergonadotropic hypogonadism |
| Disease ID | Disease Name |
|---|---|
| ORPHA:298 |
|
| OMIM:603041 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 6, 2026