FANCD2, FA complementation group D2, 2177

N. diseases: 272; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917786
rs121917786
Entrez Id: 2177;115795
Gene Symbol: FANCD2;FANCD2OS
FANCD2;FANCD2OS
CUI: C3160738
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		0.800 GeneticVariation UNIPROT Positional cloning of a novel Fanconi anemia gene, FANCD2. 11239453 2001
dbSNP: rs121917787
rs121917787
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C3160738
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		0.800 GeneticVariation UNIPROT Positional cloning of a novel Fanconi anemia gene, FANCD2. 11239453 2001
dbSNP: rs121917787
rs121917787
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C3160738
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		T 0.800 GeneticVariation CLINVAR Positional cloning of a novel Fanconi anemia gene, FANCD2. 11239453 2001
dbSNP: rs121917786
rs121917786
Entrez Id: 2177;115795
Gene Symbol: FANCD2;FANCD2OS
FANCD2;FANCD2OS
CUI: C3160738
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121917787
rs121917787
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C3160738
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs76041173
rs76041173
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs943009372
rs943009372
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 GeneticVariation CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520 2013
dbSNP: rs35782247
rs35782247
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs35782247
rs35782247
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs121917787
rs121917787
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0015625
Disease:
Fanconi Anemia 		T 0.700 CausalMutation CLINVAR Insights into Fanconi Anaemia from the structure of human FANCE. 17308347 2007
dbSNP: rs766567785
rs766567785
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0015625
Disease:
Fanconi Anemia 		A 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
dbSNP: rs943009372
rs943009372
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0015625
Disease:
Fanconi Anemia 		A 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
dbSNP: rs121917787
rs121917787
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0015625
Disease:
Fanconi Anemia 		T 0.700 CausalMutation CLINVAR Positional cloning of a novel Fanconi anemia gene, FANCD2. 11239453 2001
dbSNP: rs764507146
rs764507146
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C3160738
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		0.700 GeneticVariation UNIPROT Positional cloning of a novel Fanconi anemia gene, FANCD2. 11239453 2001
dbSNP: rs121917788
rs121917788
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C3160738
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1289665675
rs1289665675
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0015625
Disease:
Fanconi Anemia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553607671
rs1553607671
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0015625
Disease:
Fanconi Anemia 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs1553608812
rs1553608812
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C3160738
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1559399574
rs1559399574
Entrez Id: 2177;115795
Gene Symbol: FANCD2;FANCD2OS
FANCD2;FANCD2OS
CUI: C3160738
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs869312805
rs869312805
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C3160738
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs765576835
rs765576835
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C1961099
Disease:
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.020 GeneticVariation BEFREE We describe a pedigree with FANCD2 mutations c.458T > C (p.Leu153Ser) and c.2715 + 1G > A (p.Glu906LeufsX4) with mild phenotype FA in the index case, T cell ALL in the Leu153Ser heterozygous brother and testicular seminoma in the p.Glu906LeufsX4 heterozygous father. 22829014 2012
dbSNP: rs765576835
rs765576835
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0015625
Disease:
Fanconi Anemia 		0.020 GeneticVariation BEFREE We describe a pedigree with FANCD2 mutations c.458T > C (p.Leu153Ser) and c.2715 + 1G > A (p.Glu906LeufsX4) with mild phenotype FA in the index case, T cell ALL in the Leu153Ser heterozygous brother and testicular seminoma in the p.Glu906LeufsX4 heterozygous father. 22829014 2012
dbSNP: rs765576835
rs765576835
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C0015625
Disease:
Fanconi Anemia 		0.020 GeneticVariation BEFREE Therefore, the hypomorphic Leu153Ser mutation represents the first example of a FANCD2 defect that might promote clonal progression of tumors, such as T-ALL, and severe chemotherapy toxicity in patients without any clinical manifestations typical of FA. 17096012 2007
dbSNP: rs765576835
rs765576835
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C1961099
Disease:
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.020 GeneticVariation BEFREE A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia. 17096012 2007
dbSNP: rs753830492
rs753830492
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C3469521
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 GeneticVariation BEFREE Rare missense variants were identified in FANCA (Fanconi anemia complementation group A): c.1772G > A (p.R591Q) and c.3887A > G (p.E1296G). 31535215 2019