GO Term | Evidence Code | PMID |
---|---|---|
angiogenesis | ||
regulation of transmission of nerve impulse | ||
chemotaxis | ||
pyrimidine nucleobase metabolic process | ||
regulation of gastric motility |
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:0090072 | hypogonadotropic hypogonadism 12 with or without anosmia | |
DOID:0090073 | hypogonadotropic hypogonadism 13 with or without anosmia | |
DOID:0090074 | hypogonadotropic hypogonadism 8 with or without anosmia | |
DOID:0090076 | hypogonadotropic hypogonadism 18 with or without anosmia | |
DOID:0090077 | hypogonadotropic hypogonadism 4 with or without anosmia | |
DOID:0090078 | hypogonadotropic hypogonadism 7 with or without anosmia | |
DOID:0090079 | hypogonadotropic hypogonadism 17 with or without anosmia | |
DOID:0090080 | hypogonadotropic hypogonadism 16 with or without anosmia | |
DOID:0090081 | hypogonadotropic hypogonadism 22 with or without anosmia | |
DOID:0090082 | hypogonadotropic hypogonadism 20 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