Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB MUTATION
HBB MUTATION - Associated Disease
- thalassemia
- Source Database
- DisGeNET
- Description
- A novel promoter mutation (HBB: c.-75G>T) was identified as a cause of β(+)-thalassemia.
- Pubmed
- 25657036
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.0649170097771522
Drugs