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:1612 | breast cancer | |
DOID:182 | calcinosis | |
DOID:1826 | epilepsy | |
DOID:2340 | craniosynostosis | |
DOID:2485 | phosphorus metabolism disease | |
DOID:2975 | cystic kidney disease | |
DOID:3459 | breast carcinoma | |
DOID:397 | restrictive cardiomyopathy | |
DOID:539 | ophthalmoplegia | |
DOID:540 | strabismus |
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 |
---|---|---|---|
103669872 | URSMA14596 | ||
114035550 | VOMUR11192 | ||
105879785 | MICMU02971 | ||
100962465 | OTOGA13769 | ||
101061476 | TAKRU36220 | ||
102793327 | NEOBR05529 | ||
102005645 | CHILA11869 | ||
108236710 | KRYMA11529 | ||
105727457 | AOTNA07552 | ||
110206579 | PHACI34217 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024