Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB MUTATION
HBB MUTATION - Associated Disease
- thalassemia
- Source Database
- DisGeNET
- Description
- Confirmation of the β-globin gene mutations involved in thalassemia is usually carried out by molecular analysis of DNA extracted from leukocytes in whole blood.
- Pubmed
- 26554253
- 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
- 2
- Original source reporting the Gene Disease association
- BeFree,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.0649170097771522
Drugs