Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB MUTATION
HBB MUTATION - Associated Disease
- thalassemia
- Source Database
- DisGeNET
- Description
- Although the globin genes of the HBB locus are intact, most of these patients suffer thalassemia due to the reduced expression of such genes.
- Pubmed
- 25186056
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.0649170097771522
Drugs