Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 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: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 GeneticVariation CLINVAR Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. 29269525

2018
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 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: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 GeneticVariation CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661

2017
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 GeneticVariation CLINVAR A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents. 28864460

2017
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 GeneticVariation CLINVAR Integrative field scale phenotyping for investigating metabolic components of water stress within a vineyard. 29093742

2017
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 GeneticVariation CLINVAR FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients. 26799702

2016
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 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: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 GeneticVariation CLINVAR Profiling Fanconi Anemia Gene Mutations among Iranian Patients. 27041517

2016
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 CausalMutation CLINVAR Profiling Fanconi Anemia Gene Mutations among Iranian Patients. 27041517

2016
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 CausalMutation 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: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 CausalMutation CLINVAR FANCA safeguards interphase and mitosis during hematopoiesis in vivo. 26366677

2015
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 GeneticVariation CLINVAR DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity. 25583207

2015
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 CausalMutation CLINVAR Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. 26136524

2015
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 GeneticVariation CLINVAR A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing. 25953249

2015
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 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: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 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: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 CausalMutation CLINVAR Fanconi anemia signaling network regulates the spindle assembly checkpoint. 23934222

2013
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 GeneticVariation CLINVAR Fanconi anemia signaling network regulates the spindle assembly checkpoint. 23934222

2013
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 GeneticVariation CLINVAR Molecular defects identified by whole exome sequencing in a child with Fanconi anemia. 23973728

2013
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 CausalMutation CLINVAR Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. 24037726

2013
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 GeneticVariation 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: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		1.000 CausalMutation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520

2013