Annotation Detail
Information
- Associated Genes
- G6PD
- Associated Variants
-
G6PD MUTATION
G6PD MUTATION - Associated Disease
- Deficiency of glucose-6-phosphate dehydrogenase
- Source Database
- DisGeNET
- Description
- Haplotype analysis reveals the G6PD locus to be under balancing selection, suggesting a mechanism of protection relying on alleles at modest frequency and avoiding fixation, where protection provided by G6PD deficiency against severe malaria is offset by increased risk of life-threatening complications.
- Pubmed
- 25671784
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.243440631054513
Drugs