UniProt | Protein Name |
---|---|
Q9NQ66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
interleukin-12-mediated signaling pathway | ||
negative regulation of DNA-templated transcription | ||
inositol trisphosphate metabolic process | ||
ion channel modulating, G protein-coupled receptor signaling pathway | ||
cellular response to vasopressin |
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:0110039 | Alzheimer's disease 7 | |
DOID:0110041 | Alzheimer's disease 8 | |
DOID:0110043 | Alzheimer's disease 10 | |
DOID:0110044 | Alzheimer's disease 11 | |
DOID:0110045 | Alzheimer's disease 12 | |
DOID:0110046 | Alzheimer's disease 13 | |
DOID:0110047 | Alzheimer's disease 14 | |
DOID:0110048 | Alzheimer's disease 15 | |
DOID:10113 | trypanosomiasis | |
DOID:10487 | Hirschsprung's disease |
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 |
---|---|---|---|
102529315 | VICPA00297 | ||
112158335 | ORYME16695 | ||
101065367 | TAKRU14042 | ||
102020797 | CHILA04920 | ||
105719088 | AOTNA04880 | ||
101047168 | SAIBB21825 | ||
111240392 | SERDU01521 | ||
108423552 | PYGNA04390 | ||
101954421 | ICTTR08186 | ||
103148043 | POEFO17138 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024