Annotation Detail
Information
- Associated Genes
- G6PC1
- Associated Variants
-
G6PC1 p.Arg83Cys (p.R83C)
(
ENST00000592383.5,
ENST00000253801.7,
ENST00000585489.1 )
G6PC1 p.Arg83Cys (p.R83C) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 ) - Associated Disease
- Glycogen Storage Disease Type I
- Source Database
- DisGeNET
- Description
- Glycogen storage disease type Ia (GSD-Ia) is caused by deleterious mutations in the glucose-6-phosphatase gene (G6PC).
- Pubmed
- 15542400
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.45486328961596
- Year of publication
- 2004
Drugs