FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		G 0.800 GeneticVariation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742 2018
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064 2009
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.800 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057 2008
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		G 0.800 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.800 GeneticVariation UNIPROT Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		G 0.800 GeneticVariation CLINVAR Evidence for subcomplexes in the Fanconi anemia pathway. 16720839 2006
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.800 GeneticVariation UNIPROT Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. 11091222 2000
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.800 GeneticVariation UNIPROT Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. 10807541 2000
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.800 GeneticVariation UNIPROT Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. 10094191 1999
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.800 GeneticVariation UNIPROT High frequency of large intragenic deletions in the Fanconi anemia group A gene. 10521298 1999
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.800 GeneticVariation UNIPROT A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation. 10210316 1999
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.800 GeneticVariation UNIPROT Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. 9929978 1999
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.800 GeneticVariation UNIPROT Sequence variation in the Fanconi anemia gene FAA. 9371798 1997
dbSNP: rs780825099
rs780825099
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.800 GeneticVariation UNIPROT Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. 9399890 1997