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: rs148473140
rs148473140
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.800 GeneticVariation CLINVAR FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients. 26799702 2016
dbSNP: rs148473140
rs148473140
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.800 GeneticVariation CLINVAR Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. 24037726 2013
dbSNP: rs148473140
rs148473140
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: rs148473140
rs148473140
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.800 GeneticVariation CLINVAR Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. 15643609 2005
dbSNP: rs148473140
rs148473140
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.800 GeneticVariation CLINVAR Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. 15523645 2004
dbSNP: rs148473140
rs148473140
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.800 GeneticVariation CLINVAR Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants. 12444097 2002
dbSNP: rs148473140
rs148473140
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.800 GeneticVariation CLINVAR A cytoplasmic serine protein kinase binds and may regulate the Fanconi anemia protein FANCA. 11739169 2001
dbSNP: rs148473140
rs148473140
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: rs148473140
rs148473140
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: rs148473140
rs148473140
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.800 GeneticVariation CLINVAR Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. 10807541 2000
dbSNP: rs148473140
rs148473140
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: rs148473140
rs148473140
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: rs148473140
rs148473140
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.800 GeneticVariation CLINVAR The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability. 10090479 1999
dbSNP: rs148473140
rs148473140
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: rs148473140
rs148473140
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: rs148473140
rs148473140
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		A 0.800 GeneticVariation CLINVAR Sequence variation in the Fanconi anemia gene FAA. 9371798 1997
dbSNP: rs148473140
rs148473140
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
dbSNP: rs148473140
rs148473140
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