Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) ×
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 GeneticVariation CLINVAR Molecular defects identified by whole exome sequencing in a child with Fanconi anemia. 23973728 2013
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.700 GeneticVariation 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 GeneticVariation CLINVAR Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants. 12444097 2002
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.700 GeneticVariation CLINVAR High frequency of large intragenic deletions in the Fanconi anemia group A gene. 10521298 1999