Annotation Detail
Information
- Associated Genes
- G6PC1
- Associated Variants
-
G6PC1 p.Arg83His (p.R83H)
(
ENST00000592383.5,
ENST00000253801.7,
ENST00000585489.1 )
G6PC1 p.Gly188Ser (p.G188S) ( ENST00000585489.1, ENST00000592383.5, ENST00000253801.7 )
G6PC1 p.Gly188Arg (p.G188R) ( ENST00000253801.7, ENST00000592383.5, ENST00000585489.1 )
G6PC1 p.Arg83His (p.R83H) ( ENST00000592383.5, ENST00000253801.7, ENST00000585489.1 )
G6PC1 p.Gly188Ser (p.G188S) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 )
G6PC1 p.Gly188Arg (p.G188R) ( ENST00000253801.7, ENST00000585489.1, ENST00000592383.5 ) - Associated Disease
- Glycogen Storage Disease Type I
- Source Database
- DisGeNET
- Description
- Some genotype-phenotype correlations exist, for example, homozygosity for one G6PC mutation, G188R, seems to be associated with a glycogen storage disease type I non-a phenotype and homozygosity for the 727G>T mutation may be associated with a milder phenotype but an increased risk for hepatocellular carcinoma.
- Pubmed
- 12373566
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.45486328961596
- Year of publication
- 2002
Drugs