FANCC, FA complementation group C, 2176

N. diseases: 218; N. variants: 90
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 		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 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 A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. 8499901 1993
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
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: 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: rs104886458
rs104886458
Entrez Id: 2176;84909
Gene Symbol: FANCC;AOPEP
FANCC;AOPEP
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.800 GeneticVariation UNIPROT Mutation analysis of the Fanconi anemia gene FACC. 8128956 1994
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 Cloning of cDNAs for Fanconi's anaemia by functional complementation. 1574115 1992
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: 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: 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 Cloning of cDNAs for Fanconi's anaemia by functional complementation. 1574115 1992
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 Novel mutations and polymorphisms in the Fanconi anemia group C gene. 8844212 1996
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 Mutation analysis of the Fanconi anemia gene FACC. 8128956 1994
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: 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 A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. 8499901 1993
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: 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: rs1800365
rs1800365
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C3468041
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		0.700 GeneticVariation UNIPROT
dbSNP: rs190889494
rs190889494
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs76188060
rs76188060
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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 Mutation analysis of the Fanconi anemia gene FACC. 8128956 1994
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 A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. 8499901 1993
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