rs397507552, FANCA

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.700 CausalMutation CLINVAR Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 24584348 2014
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
0.700 CausalMutation CLINVAR Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 24584348 2014
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.700 CausalMutation CLINVAR Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 21273304 2011
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
0.700 CausalMutation CLINVAR Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 21273304 2011
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
0.700 CausalMutation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192 2009
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
0.700 CausalMutation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
0.700 CausalMutation CLINVAR Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. 15643609 2005
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
0.700 CausalMutation CLINVAR Positional cloning of the Fanconi anaemia group A gene. 8896564 1996