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:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000071 | Ureteral stenosis |
HP:0000072 | Hydroureter |
HP:0000079 | Abnormality of the urinary system |
HP:0000107 | Renal cyst |
HP:0000110 | Renal dysplasia |
HP:0000121 | Nephrocalcinosis |
HP:0000164 | Abnormality of the dentition |
HP:0000194 | Open mouth |
Disease ID | Disease Name |
---|---|
OMIM:615398 |
|
ORPHA:369837 |
|
OMIM:615399 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100468660 | AILME14696 | ||
101686906 | MUSPF15941 | ||
101088150 | FELCA06802 | ||
122215488 | PANLE01094 | ||
101339291 | TURTR03366 | ||
118881527 | BALMU20276 | ||
100661262 | LOXAF13202 | ||
100157171 | PIGXX11837 | ||
504724 | BOVIN05330 | ||
102175138 | CAPHI04249 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024