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: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 |
---|---|---|---|
105981714 | DIPOR03746 | ||
100765538 | CRIGR12965 | ||
78928 | MGI:1926178 | MOUSE33788 | |
296360 | RGD:1307156 | RATNO27030 | |
100724365 | CAVPO16502 | ||
101726322 | HETGA11843 | ||
100618767 | MONDO08379 | ||
102444991 | PELSI15709 | ||
100560337 | ANOCA15606 | ||
107087509 | CYPVA09945 |
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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