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 |
---|---|---|---|
108428158 | PYGNA09969 | ||
103154276 | POEFO18559 | ||
101600480 | JACJA01619 | ||
118287390 | SCOMX21537 | ||
102425315 | MYOLU17033 | ||
117028157 | RHIFE08848 | ||
115492593 | TAEGU00869 | ||
103223569 | CHLSB07456 | ||
108539414 | RHIBE24008 | ||
114606041 | PODMU34282 |
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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