Annotation Detail
Information
- Associated Genes
- FANCA
- Associated Variants
-
FANCA MUTATION
FANCA MUTATION - Associated Disease
- FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
- Source Database
- DisGeNET
- Description
- In addition to the case report, the main focus of this manuscript was to review literature on role of FANCA gene in FA since large number of FANCA mutations and polymorphisms have been identified.
- Pubmed
- 25953249
- 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
- 16
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,MGD,UNIPROT
- DisGENET score for the Gene Disease association
- 0.340086698533942
Drugs