Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB MUTATION
HBB MUTATION - Associated Disease
- Anemia, Sickle Cell
- Source Database
- DisGeNET
- Description
- Sickle cell disease (SCD) is characterized by a single point mutation in the seventh codon of the β-globin gene.
- Pubmed
- 25733580
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- 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,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.577859960475621
Drugs