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:0010864 | Intellectual disability, severe |
HP:0011199 | EEG with generalized sharp slow waves |
HP:0011330 | Metopic synostosis |
HP:0011448 | Ankle clonus |
HP:0011470 | Nasogastric tube feeding in infancy |
HP:0011842 | Abnormal skeletal morphology |
HP:0012373 | Abnormal eye physiology |
HP:0012378 | Fatigue |
HP:0012718 | Abnormal gastrointestinal tract morphology |
HP:0100704 | Cerebral visual impairment |
Disease ID | Disease Name |
---|---|
OMIM:615398 |
|
ORPHA:369837 |
|
OMIM:615399 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115408732 | SALFA40117 | ||
113487477 | ATHCN16729 | ||
103384972 | CYNSE01870 | ||
105821253 | PROCO28619 | ||
856595 | SGD:S000001231 | ||
109080311 | CYPCA125898 | ||
109108130 | CYPCA116922 | ||
103736141 | NANGA25405 | ||
103259847 | CARSF23640 | ||
115615271 | STRHB24262 |
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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