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:13250 | diarrhea | |
DOID:0060249 | scoliosis | |
DOID:0060284 | paroxysmal nocturnal hemoglobinuria | |
DOID:0080140 | multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
DOID:10293 | monocular esotropia | |
DOID:10575 | calcium metabolism disease | |
DOID:11476 | osteoporosis | |
DOID:11771 | spontaneous ocular nystagmus | |
DOID:11832 | visual epilepsy | |
DOID:12678 | hypercalcemia |
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 |
---|---|---|---|
104678844 | RHIRO03891 | ||
100605354 | NOMLE07211 | ||
114599564 | PODMU06439 | ||
107551531 | SINGR35574 | ||
107593938 | SINGR06866 | ||
111566394 | AMPOC07632 | ||
106843019 | EQUAS06789 | ||
116817340 | CHEAB01263 | ||
105298214 | PTEVA04911 | ||
115046455 | ECHNA00356 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024