Annotation Detail
Information
- Associated Genes
- G6PC1
- Associated Variants
-
G6PC1 p.Arg83Cys (p.R83C)
(
ENST00000592383.5,
ENST00000253801.7,
ENST00000585489.1 )
G6PC1 p.Val166Gly (p.V166G) ( ENST00000585489.1, ENST00000592383.5, ENST00000253801.7 )
G6PC1 p.Arg83Cys (p.R83C) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 )
G6PC1 p.Val166Gly (p.V166G) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 ) - Associated Disease
- glycogen storage disease
- Source Database
- DisGeNET
- Description
- Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.
- Pubmed
- 7623438
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0219307098117121
- Year of publication
- 1995
Drugs