UniProt | Protein Name |
---|---|
A0A8Q3SIG5 |
|
Q9BUM1 |
|
K7EJC5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glucose 6-phosphate metabolic process | ||
glucose-6-phosphate transport | ||
gluconeogenesis |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane | ||
membrane |
DO ID | Disease Name | Source |
---|---|---|
DOID:0111040 | glycogen storage disease IXd | |
DOID:0111041 | glycogen storage disease IXb | |
DOID:0111042 | glycogen storage disease IXa | |
DOID:0111043 | glycogen storage disease IXc | |
DOID:0112136 | severe congenital neutropenia 4 | |
DOID:10003 | sensorineural hearing loss | |
DOID:1059 | intellectual disability | |
DOID:10787 | premature menopause | |
DOID:10907 | microcephaly | |
DOID:11111 | hydronephrosis |
HPO ID | HPO Term |
---|---|
HP:0000388 | Otitis media |
HP:0000407 | Sensorineural hearing impairment |
HP:0000431 | Wide nasal bridge |
HP:0000768 | Pectus carinatum |
HP:0000778 | Hypoplasia of the thymus |
HP:0000954 | Single transverse palmar crease |
HP:0001015 | Prominent superficial veins |
HP:0001263 | Global developmental delay |
HP:0001433 | Hepatosplenomegaly |
HP:0001508 | Failure to thrive |
Disease ID | Disease Name |
---|---|
OMIM:612541 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
105822129 | PROCO29748 | ||
109065763 | CYPCA105705 | ||
103738281 | NANGA01205 | ||
103255595 | CARSF29515 | ||
115617792 | STRHB21321 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024