GO Term | Evidence Code | PMID |
---|---|---|
pyrimidine nucleoside metabolic process | ||
AMP catabolic process |
|
|
signal transduction | ||
regulation of myelination | ||
mitochondrial genome maintenance |
GO Term | Evidence Code | PMID |
---|---|---|
thymidine phosphorylase activity | ||
protein homodimerization activity | ||
growth factor activity | ||
protein binding | ||
pyrimidine-nucleoside phosphorylase activity |
|
DO ID | Disease Name | Source |
---|---|---|
DOID:0050387 | nonpapillary renal cell carcinoma | |
DOID:0050773 | paraganglioma | |
DOID:0050865 | tongue squamous cell carcinoma | |
DOID:0060074 | ductal carcinoma in situ | |
DOID:0060260 | ptosis | |
DOID:0060261 | congenital ptosis | |
DOID:0060870 | isolated growth hormone deficiency | |
DOID:0060872 | isolated growth hormone deficiency type II | |
DOID:0060873 | isolated growth hormone deficiency type IA | |
DOID:0060874 | isolated growth hormone deficiency type IB |
HPO ID | HPO Term |
---|---|
HP:0002500 | Abnormal cerebral white matter morphology |
HP:0002522 | Areflexia of lower limbs |
HP:0002578 | Gastroparesis |
HP:0002579 | Gastrointestinal dysmotility |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0002922 | Increased CSF protein concentration |
HP:0002936 | Distal sensory impairment |
HP:0003128 | Lactic acidosis |
HP:0003199 | Decreased muscle mass |
HP:0003200 | Ragged-red muscle fibers |
Disease ID | Disease Name |
---|---|
ORPHA:298 |
|
OMIM:603041 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102359893 | LATCH07847 | ||
103910413 | ZFIN:ZDB-GENE-100415-1 | ||
103037194 | ASTMX07104 | ||
113584422 | ELEEL32709 | ||
105024878 | ESOLU54576 | ||
100195250 | SALSA51758 | ||
115188366 | SALTR47533 | ||
115188367 | SALTR47533 | ||
115188413 | SALTR47533 | ||
115188414 | SALTR47511 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024