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: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 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100552690 | ANOCA12161 | ||
107089065 | CYPVA12504 | ||
114037493 | VOMUR23004 | ||
100961589 | OTOGA17268 | ||
102784011 | NEOBR01259 | ||
102005582 | CHILA04697 | ||
105704872 | AOTNA39380 | ||
110205911 | PHACI28675 | ||
101043242 | SAIBB20939 | ||
111224845 | SERDU03500 |
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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