Annotation Detail
Information
- Associated Genes
- G6PD
- Associated Variants
-
G6PD p.Ser188Phe (p.S188F)
(
ENST00000369620.6,
ENST00000393562.10,
ENST00000393564.7,
ENST00000439227.6,
ENST00000696420.1,
ENST00000696421.1,
ENST00000696429.1,
ENST00000696430.1 )
G6PD p.Ser188Phe (p.S188F) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 ) - Associated Disease
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Source Database
- DisGeNET
- Description
- Two point mutations are responsible for G6PD polymorphism in Sardinia.
- Pubmed
- 2912069
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- 1989
Drugs