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: 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: 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: 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: 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

Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.700 CausalMutation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520

2013

Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.700 CausalMutation CLINVAR Investigation of FANCA mutations in Greek patients. 23898106

2013

Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.700 CausalMutation CLINVAR Human Fanconi anemia complementation group a protein stimulates the 5' flap endonuclease activity of FEN1. 24349332

2013

Entrez Id: 2175
Gene Symbol: FANCA
FANCA
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: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.700 GeneticVariation CLINVAR Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 21273304

2011

Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011

Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.700 CausalMutation CLINVAR Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 21273304

2011

Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.700 CausalMutation CLINVAR Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M. 19423727

2009

Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.700 GeneticVariation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192

2009

Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.700 CausalMutation CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192

2009

Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.700 CausalMutation CLINVAR Diagnosis of Fanconi anemia in patients with bone marrow failure. 19278965

2009

Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.700 CausalMutation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008

Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.700 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555

2008