UniProt | Protein Name |
---|---|
Q969N2 |
|
GO Term | Evidence Code | PMID |
---|---|---|
neuron differentiation | ||
neuron apoptotic process | ||
attachment of GPI anchor to protein |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
membrane | ||
GPI-anchor transamidase complex | ||
cytoplasmic vesicle |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:12679 | nephrocalcinosis | |
DOID:13174 | dissociated nystagmus | |
DOID:13515 | tuberous sclerosis | |
DOID:13832 | patent ductus arteriosus | |
DOID:14213 | hypophosphatasia | |
DOID:1432 | blindness | |
DOID:14323 | Marfan syndrome | |
DOID:1443 | cerebral degeneration | |
DOID:1555 | urticaria | |
DOID:1558 | angioedema |
HPO ID | HPO Term |
---|---|
HP:0000218 | High palate |
HP:0000248 | Brachycephaly |
HP:0000256 | Macrocephaly |
HP:0000272 | Malar flattening |
HP:0000341 | Narrow forehead |
HP:0000343 | Long philtrum |
HP:0000347 | Micrognathia |
HP:0000348 | High forehead |
HP:0000365 | Hearing impairment |
HP:0000369 | Low-set ears |
Disease ID | Disease Name |
---|---|
OMIM:615398 |
|
ORPHA:369837 |
|
OMIM:615399 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113013141 | ASTCA21461 | ||
115585201 | SPAAU52704 | ||
494735 | Xenbase:XB-GENE-1014756 | ||
549869 | Xenbase:XB-GENE-1014749 | ||
101931969 | CHRPI04858 | ||
113434409 | PSETE05116 | ||
100085380 | ORNAN25492 | ||
100930569 | SARHA01997 | ||
100408743 | CALJA32637 | ||
105588473 | CERAT30270 |
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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