Annotation Detail
Information
- Associated Genes
- HBB
- Associated Variants
-
HBB MUTATION
HBB MUTATION - Associated Disease
- Anemia, Sickle Cell
- Source Database
- DisGeNET
- Description
- SCD-corrected hiPSC lines showed gene conversion of the mutated βS to the wild-type βA in one of the HBB alleles, while the other allele remained a mutant phenotype.
- Pubmed
- 25245091
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- 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