Annotation Detail
Information
- Associated Genes
- FANCA
- Associated Variants
-
FANCA MUTATION
FANCA MUTATION - Associated Disease
- Fanconi anemia
- Source Database
- DisGeNET
- Description
- A common ancestral haplotype is strongly suggested in the Korean and Japanese patients with Fanconi anemia (FA), because common mutations have been frequently found: c.2546delC and c.3720_3724delAAACA of FANCA; c.307+1G>C, c.1066C>T, and c.1589_1591delATA of FANCG.
- Pubmed
- 25703136
- 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
- DisGENET score for the Gene Disease association
- 0.392255432472428
Drugs