Annotation Detail
Information
- Associated Genes
- G6PD
- Associated Variants
-
G6PD MUTATION
G6PD MUTATION - Associated Disease
- kernicterus
- Source Database
- DisGeNET
- Description
- Misdiagnosis of G-6-PD deficiency in neonates, at risk of severe hemolytic episodes, extreme hyperbilirubinemia, and bilirubin encephalopathy, could possibly occur due to presence of reticulocytes, which contain higher amounts of G-6-PD than mature erythrocytes.
- Pubmed
- 25632835
- Section of the abstract supporting the evidence
- BACKGROUND
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
Drugs