UniProt | Protein Name |
---|---|
Q9NQ66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of transcription, DNA-templated | ||
glutamate receptor signaling pathway | ||
negative regulation of transcription, DNA-templated | ||
positive regulation of embryonic development | ||
positive regulation of JNK cascade |
GO Term | Evidence Code | PMID |
---|---|---|
enzyme binding | ||
phospholipase C activity |
|
|
phosphatidylinositol-4,5-bisphosphate binding | ||
calcium ion binding | ||
lamin binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:3329 | benign epilepsy with centrotemporal spikes | |
DOID:3362 | coronary aneurysm | |
DOID:3459 | breast carcinoma | |
DOID:3535 | Unverricht-Lundborg syndrome | |
DOID:3571 | liver cancer | |
DOID:3620 | central nervous system cancer | |
DOID:450 | myotonic disease | |
DOID:4851 | pilocytic astrocytoma | |
DOID:4903 | granular cell carcinoma | |
DOID:4929 | tubular adenocarcinoma |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000505 | Visual impairment |
HP:0000707 | Abnormality of the nervous system |
HP:0000826 | Precocious puberty |
HP:0001252 | Hypotonia |
HP:0001257 | Spasticity |
HP:0001273 | Abnormal corpus callosum morphology |
HP:0001276 | Hypertonia |
HP:0001336 | Myoclonus |
Disease ID | Disease Name |
---|---|
ORPHA:293181 |
|
OMIM:613722 |
|
ORPHA:3451 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102432706 | MYOLU17480 | ||
117015870 | RHIFE23989 | ||
100219122 | TAEGU22258 | ||
103246657 | CHLSB07727 | ||
108527553 | RHIBE23738 | ||
104668296 | RHIRO39075 | ||
100597115 | NOMLE02820 | ||
114593658 | PODMU16879 | ||
105299444 | PTEVA15633 | ||
115037695 | ECHNA30864 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024