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Standards Ontologies Notations
glycogen storage disease Ia

Summary
Definition
A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21.
Super Class
autosomal recessive disease glycogen storage disease I
External Links
Disease Ontology
DOID:2749
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 61 - 65 of 65 in total
Gene ID Gene Symbol Description Source
54657 UGT1A4 UDP glucuronosyltransferase family 1 member A4
54658 UGT1A1 UDP glucuronosyltransferase family 1 member A1
57818 G6PC2 glucose-6-phosphatase catalytic subunit 2
79796 ALG9 ALG9 alpha-1,2-mannosyltransferase
92579 G6PC3 glucose-6-phosphatase catalytic subunit 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
14377 G6pc1 glucose-6-phosphatase catalytic subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
25634 G6pc1 glucose-6-phosphatase catalytic subunit 1
Related Glycoprotein
The Human Phenotype Ontology
Displaying entry 31 - 31 of 31 in total
HPO ID HPO Term
HP:0000991 Xanthomatosis
Displaying 1 entry
Gene ID Gene Symbol Description
2538 G6PC1 glucose-6-phosphatase catalytic subunit 1
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024