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:0000639 | Nystagmus |
HP:0000767 | Pectus excavatum |
HP:0000826 | Precocious puberty |
HP:0000829 | Hypoparathyroidism |
HP:0000938 | Osteopenia |
HP:0000939 | Osteoporosis |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
Disease ID | Disease Name |
---|---|
OMIM:615398 |
|
ORPHA:369837 |
|
OMIM:615399 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
710556 | MACMU01368 | ||
105496440 | MACNE14079 | ||
105542320 | MANLE23282 | ||
101139081 | GORGO22956 | ||
100988640 | PANPA22389 | ||
458282 | PANTR24952 | ||
100172943 | PONAB20581 | ||
477244 | CANLF09586 | ||
112920066 | VULVU12502 | ||
123797034 | URSAM20082 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024