FANCI, FA complementation group I, 55215

N. diseases: 147; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918163
rs121918163
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C1836861
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.800 GeneticVariation UNIPROT Identification of the Fanconi anemia complementation group I gene, FANCI. 17452773 2007
dbSNP: rs121918163
rs121918163
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C1836861
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.800 GeneticVariation UNIPROT FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. 17460694 2007
dbSNP: rs121918163
rs121918163
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C1836861
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.800 GeneticVariation UNIPROT Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. 17412408 2007
dbSNP: rs121918163
rs121918163
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C1836861
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1131691575
rs1131691575
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C0751651
Disease:
Mitochondrial Diseases 		T 0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017
dbSNP: rs140404896
rs140404896
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
CUI: C1836861
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		A 0.700 GeneticVariation CLINVAR Novel FANCI mutations in Fanconi anemia with VACTERL association. 26590883 2016
dbSNP: rs140404896
rs140404896
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
CUI: C1836861
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		A 0.700 GeneticVariation CLINVAR Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer. 24989076 2015
dbSNP: rs375656231
rs375656231
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
CUI: C0015625
Disease:
Fanconi Anemia 		T 0.700 CausalMutation CLINVAR Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy. 26296701 2015
dbSNP: rs2238300
rs2238300
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C0005890
Disease:
Body Height 		A 0.700 GeneticVariation GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
dbSNP: rs62020347
rs62020347
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.700 GeneticVariation GWASDB Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population. 23555315 2013
dbSNP: rs140404896
rs140404896
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
CUI: C1836861
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		A 0.700 GeneticVariation CLINVAR Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing. 22720145 2012
dbSNP: rs748000458
rs748000458
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
CUI: C1836861
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		T 0.700 GeneticVariation CLINVAR First systematic experience of preimplantation genetic diagnosis for de-novo mutations. 21324748 2011
dbSNP: rs1131691575
rs1131691575
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. 20185557 2010
dbSNP: rs1131691575
rs1131691575
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR The unfolding clinical spectrum of POLG mutations. 19578034 2009
dbSNP: rs748000458
rs748000458
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
CUI: C1836861
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		T 0.700 GeneticVariation CLINVAR Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 17924555 2008
dbSNP: rs772737979
rs772737979
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		G 0.700 GeneticVariation CLINVAR Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365 2008
dbSNP: rs776031396
rs776031396
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C1834846
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		0.700 GeneticVariation UNIPROT Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. 18575922 2008
dbSNP: rs1131691575
rs1131691575
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. 16957900 2007
dbSNP: rs748000458
rs748000458
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
CUI: C1836861
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		T 0.700 GeneticVariation CLINVAR FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. 17460694 2007
dbSNP: rs762128147
rs762128147
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
CUI: C1836861
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		G 0.700 GeneticVariation CLINVAR Identification of the Fanconi anemia complementation group I gene, FANCI. 17452773 2007
dbSNP: rs776031396
rs776031396
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C1834846
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		0.700 GeneticVariation UNIPROT Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. 17420318 2007
dbSNP: rs776031396
rs776031396
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C1834846
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		0.700 GeneticVariation UNIPROT Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. 17846414 2007
dbSNP: rs1085307741
rs1085307741
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917 2006
dbSNP: rs1131691575
rs1131691575
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C4225153
Disease:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 GeneticVariation UNIPROT Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. 16401742 2006
dbSNP: rs1131691575
rs1131691575
Entrez Id: 5428;55215
Gene Symbol: POLG;FANCI
POLG;FANCI
CUI: C4225153
Disease:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 GeneticVariation UNIPROT Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. 16639411 2006