Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520

2013
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Insights into Fanconi Anaemia from the structure of human FANCE. 17308347

2007
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation CLINVAR Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. 17436244

2007
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. 17436244

2007
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR Retroviral transduction of the cloned FANCD2 cDNA into FA-D2 cells resulted in functional complementation of MMC sensitivity. 11239453

2001