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:583 | hemolytic anemia | |
DOID:631 | fibromyalgia | |
DOID:633 | myositis | |
DOID:743 | dermatographia | |
DOID:758 | situs inversus | |
DOID:9306 | mechanical strabismus | |
DOID:936 | brain disease | |
DOID:9621 | non-congenital cyst of kidney | |
DOID:9649 | congenital nystagmus | |
DOID:9650 | pathologic nystagmus |
HPO ID | HPO Term |
---|---|
HP:0001263 | Global developmental delay |
HP:0001272 | Cerebellar atrophy |
HP:0001290 | Generalized hypotonia |
HP:0001321 | Cerebellar hypoplasia |
HP:0001363 | Craniosynostosis |
HP:0001382 | Joint hypermobility |
HP:0001442 | Typified by somatic mosaicism |
HP:0001513 | Obesity |
HP:0001520 | Large for gestational age |
HP:0001627 | Abnormal heart morphology |
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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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