rs772359099, FANCA

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
0.700 CausalMutation CLINVAR Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer. 28423363 2017
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, 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, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.700 CausalMutation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.700 CausalMutation CLINVAR High frequency of large intragenic deletions in the Fanconi anemia group A gene. 10521298 1999
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.700 CausalMutation CLINVAR Sequence variation in the Fanconi anemia gene FAA. 9371798 1997
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
0.700 CausalMutation CLINVAR Sequence variation in the Fanconi anemia gene FAA. 9371798 1997