AOPEP, aminopeptidase O (putative), 84909

N. diseases: 23; N. variants: 58
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1035139114
rs1035139114
Entrez Id: 2176;84909;107987102
Gene Symbol: FANCC;AOPEP;LOC107987102
FANCC;AOPEP;LOC107987102
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs. 20869034 2010
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C1861028
Disease:
Esophageal atresia with or without tracheoesophageal fistula 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Novel mutations and polymorphisms in the Fanconi anemia group C gene. 8844212 1996
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 GeneticVariation CLINVAR The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression. 24469828 2014
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. 8348157 1993
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. 8103176 1993
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study. 9207444 1997
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR IVS4+4A>T, del322G, and R548X, in FA patients. 28425259 2017
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Should chromosome breakage studies be performed in patients with VACTERL association? 16015582 2005
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C0015625
Disease:
Fanconi Anemia 		A 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
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. 8103176 1993
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 GeneticVariation CLINVAR FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. 8103176 1993
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 GeneticVariation CLINVAR Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant. 8882868 1996
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study. 9207444 1997
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. 8103176 1993
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant. 8882868 1996
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant. 8882868 1996
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 0.700 GeneticVariation CLINVAR Novel mutations and polymorphisms in the Fanconi anemia group C gene. 8844212 1996
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		A 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
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan. 28425259 2017
dbSNP: rs104886457
rs104886457
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C0015625
Disease:
Fanconi Anemia 		A 0.700 CausalMutation CLINVAR Novel mutations and polymorphisms in the Fanconi anemia group C gene. 8844212 1996