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:0007108 | Demyelinating peripheral neuropathy |
HP:0007141 | Sensorimotor neuropathy |
HP:0008049 | Abnormality of the extraocular muscles |
HP:0009027 | Foot dorsiflexor weakness |
HP:0009830 | Peripheral neuropathy |
HP:0011024 | Abnormality of the gastrointestinal tract |
HP:0012103 | Abnormality of the mitochondrion |
HP:0012533 | Allodynia |
HP:0012850 | Small intestinal dysmotility |
HP:0100613 | Death in early adulthood |
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