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 UNIPROT 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 UNIPROT Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. 11091222 2000
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.700 GeneticVariation UNIPROT Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. 10807541 2000
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.700 GeneticVariation UNIPROT Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. 10094191 1999
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.700 GeneticVariation UNIPROT Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. 9929978 1999
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.700 GeneticVariation UNIPROT A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation. 10210316 1999
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.700 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT Sequence variation in the Fanconi anemia gene FAA. 9371798 1997
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.700 GeneticVariation UNIPROT Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. 9399890 1997