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:0090083 | hypogonadotropic hypogonadism 2 with or without anosmia | |
DOID:0090084 | hypogonadotropic hypogonadism 5 with or without anosmia | |
DOID:0090085 | hypogonadotropic hypogonadism 9 with or without anosmia | |
DOID:0090086 | hypogonadotropic hypogonadism 6 with or without anosmia | |
DOID:0090087 | hypogonadotropic hypogonadism 14 with or without anosmia | |
DOID:0090089 | hypogonadotropic hypogonadism 10 with or without anosmia | |
DOID:0090090 | hypogonadotropic hypogonadism 19 with or without anosmia | |
DOID:0090092 | hypogonadotropic hypogonadism 3 with or without anosmia | |
DOID:0090093 | hypogonadotropic hypogonadism 21 with or without anosmia | |
DOID:0090094 | hypogonadotropic hypogonadism 1 with or without anosmia |
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 |
---|---|---|---|
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