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: rs10821415
rs10821415
Entrez Id: 84909
Gene Symbol: AOPEP
AOPEP
CUI: C0004238
Disease:
Atrial Fibrillation 		A 0.810 GeneticVariation GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
dbSNP: rs10821415
rs10821415
Entrez Id: 84909
Gene Symbol: AOPEP
AOPEP
CUI: C0004238
Disease:
Atrial Fibrillation 		0.810 GeneticVariation BEFREE Three known AF-genetic variants (rs6666258, rs6817105, and rs10821415) were associated with self-terminating AF. 28175276 2017
dbSNP: rs3802457
rs3802457
Entrez Id: 84909
Gene Symbol: AOPEP
AOPEP
CUI: C0032460
Disease:
Polycystic Ovary Syndrome 		0.810 GeneticVariation BEFREE Variants of rs3802457 in C9orf3 locus (P = 5.99×10-4) and rs13405728 in LHCGR locus (P = 3.73×10-4) were significantly associated with PCOS after the strict Bonferroni correction in our data set. 26474478 2015
dbSNP: rs10821415
rs10821415
Entrez Id: 84909
Gene Symbol: AOPEP
AOPEP
CUI: C0004238
Disease:
Atrial Fibrillation 		A 0.810 GeneticVariation GWASCAT Meta-analysis identifies six new susceptibility loci for atrial fibrillation. 22544366 2012
dbSNP: rs10821415
rs10821415
Entrez Id: 84909
Gene Symbol: AOPEP
AOPEP
CUI: C0004238
Disease:
Atrial Fibrillation 		A 0.810 GeneticVariation GWASDB Meta-analysis identifies six new susceptibility loci for atrial fibrillation. 22544366 2012
dbSNP: rs3802457
rs3802457
Entrez Id: 84909
Gene Symbol: AOPEP
AOPEP
CUI: C0032460
Disease:
Polycystic Ovary Syndrome 		G 0.810 GeneticVariation GWASDB Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. 22885925 2012
dbSNP: rs3802457
rs3802457
Entrez Id: 84909
Gene Symbol: AOPEP
AOPEP
CUI: C0032460
Disease:
Polycystic Ovary Syndrome 		G 0.810 GeneticVariation GWASCAT Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. 22885925 2012
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		G 0.800 GeneticVariation CLINVAR The Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 Phosphorylation. 26466335 2015
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		G 0.800 GeneticVariation CLINVAR The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression. 24469828 2014
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064 2009
dbSNP: rs121917785
rs121917785
Entrez Id: 2176;84909;107987102
Gene Symbol: FANCC;AOPEP;LOC107987102
FANCC;AOPEP;LOC107987102
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064 2009
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.800 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057 2008
dbSNP: rs121917785
rs121917785
Entrez Id: 2176;84909;107987102
Gene Symbol: FANCC;AOPEP;LOC107987102
FANCC;AOPEP;LOC107987102
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.800 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057 2008
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		G 0.800 CausalMutation CLINVAR Should chromosome breakage studies be performed in patients with VACTERL association? 16015582 2005
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.800 GeneticVariation UNIPROT The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR). 15299030 2004
dbSNP: rs121917785
rs121917785
Entrez Id: 2176;84909;107987102
Gene Symbol: FANCC;AOPEP;LOC107987102
FANCC;AOPEP;LOC107987102
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.800 GeneticVariation UNIPROT The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR). 15299030 2004
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		G 0.800 GeneticVariation CLINVAR FANCE: the link between Fanconi anaemia complex assembly and activity. 12093742 2002
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.800 GeneticVariation UNIPROT The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality. 11520787 2001
dbSNP: rs121917785
rs121917785
Entrez Id: 2176;84909;107987102
Gene Symbol: FANCC;AOPEP;LOC107987102
FANCC;AOPEP;LOC107987102
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.800 GeneticVariation UNIPROT The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality. 11520787 2001
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.800 GeneticVariation UNIPROT The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2. 9242535 1997
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		G 0.800 GeneticVariation CLINVAR The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2. 9242535 1997
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		G 0.800 GeneticVariation CLINVAR Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study. 9207444 1997
dbSNP: rs121917785
rs121917785
Entrez Id: 2176;84909;107987102
Gene Symbol: FANCC;AOPEP;LOC107987102
FANCC;AOPEP;LOC107987102
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.800 GeneticVariation UNIPROT The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2. 9242535 1997
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		G 0.800 GeneticVariation CLINVAR Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations. 8703809 1996
dbSNP: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.800 GeneticVariation UNIPROT Novel mutations and polymorphisms in the Fanconi anemia group C gene. 8844212 1996