Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742

2018
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. 29269525

2018
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661

2017
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: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661

2017
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 28102861

2017
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation CLINVAR Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 28102861

2017
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer. 28423363

2017
Entrez Id: 2189
Gene Symbol: FANCG
FANCG
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661

2017
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395

2016
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients. 26799702

2016
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: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients. 26968956

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: 57697
Gene Symbol: FANCM
FANCM
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 SusceptibilityMutation CLINVAR FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome. 27542569

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: 2189
Gene Symbol: FANCG
FANCG
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant. 25703136

2015
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 SusceptibilityMutation CLINVAR Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology. 26740942

2015
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant. 25703136

2015
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation 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: 55120
Gene Symbol: FANCL
FANCL
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation CLINVAR Structure of the human FANCL RING-Ube2T complex reveals determinants of cognate E3-E2 selection. 24389026

2014
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 SusceptibilityMutation CLINVAR Distribution and medical impact of loss-of-function variants in the Finnish founder population. 25078778

2014
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
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