Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan. 28425259

2017
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Fanconi Anemia Proteins Function in Mitophagy and Immunity. 27133164

2016
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. 26990548

2016
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology. 26740942

2015
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		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
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 22778927

2012
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. 23028338

2012
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia. 16429406

2006
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. 10666230

2000
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study. 9207444

1997
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Novel mutations and polymorphisms in the Fanconi anemia group C gene. 8844212

1996
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. 8639804

1996
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant. 8882868

1996
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population. 8081385

1994
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Mutation analysis of the Fanconi anemia gene FACC. 8128956

1994
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. 8103176

1993
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. 8348157

1993
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. 7689011

1993