ZNF276, zinc finger protein 276, 92822

N. diseases: 8; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.110 GeneticVariation disease CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742 2018
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 CausalMutation disease CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742 2018
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 GeneticVariation disease CLINVAR A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. 29098742 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.110 GeneticVariation disease CLINVAR Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 28102861 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.110 GeneticVariation disease CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661 2017
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 GeneticVariation disease CLINVAR A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. 28717661 2017
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 CausalMutation disease CLINVAR Profiling Fanconi Anemia Gene Mutations among Iranian Patients. 27041517 2016
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 CausalMutation disease CLINVAR FANCA safeguards interphase and mitosis during hematopoiesis in vivo. 26366677 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.110 GeneticVariation disease 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
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 GeneticVariation disease 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
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 CausalMutation disease 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
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 GeneticVariation disease CLINVAR Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. 24037726 2013
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 CausalMutation disease CLINVAR Fanconi anemia signaling network regulates the spindle assembly checkpoint. 23934222 2013
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 GeneticVariation disease CLINVAR Molecular defects identified by whole exome sequencing in a child with Fanconi anemia. 23973728 2013
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 GeneticVariation disease CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520 2013
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 CausalMutation disease CLINVAR Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. 24037726 2013
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.110 GeneticVariation disease CLINVAR Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 21273304 2011
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.110 CausalMutation disease CLINVAR Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 21273304 2011
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 GeneticVariation disease CLINVAR Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 21273304 2011
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 CausalMutation disease CLINVAR Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 21273304 2011
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.110 GeneticVariation disease CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192 2009
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 CausalMutation disease CLINVAR Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 19367192 2009
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 GeneticVariation disease CLINVAR Diagnosis of Fanconi anemia in patients with bone marrow failure. 19278965 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.110 GeneticVariation disease CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.110 CausalMutation disease CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008