Annotation Detail
Information
- Associated Genes
- G6PD
- Associated Variants
-
G6PD p.Arg393His (p.R393H)
(
ENST00000369620.6,
ENST00000393562.10,
ENST00000393564.7,
ENST00000439227.6,
ENST00000696420.1,
ENST00000696421.1,
ENST00000696429.1,
ENST00000696430.1 )
G6PD p.Arg393His (p.R393H) ( ENST00000369620.6, ENST00000393562.10, ENST00000393564.7, ENST00000439227.6, ENST00000696420.1, ENST00000696421.1, ENST00000696429.1, ENST00000696430.1 ) - Associated Disease
- Chronic non-spherocytic hemolytic anemia
- Source Database
- DisGeNET
- Description
- Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393 Arg----His) with abnormal KmG6P and marked in vivo instability.
- Pubmed
- 1536798
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00535289257148537
- Year of publication
- 1992
Drugs