Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 Biomarker GENOMICS_ENGLAND A Familial C3GN Secondary to Defective C3 Regulation by Complement Receptor 1 and Complement Factor H. 26471127

2016
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.700 Biomarker CTD_human Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. 24036952

2013
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.700 Biomarker CTD_human Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. 24036949

2013
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.700 Biomarker CTD_human A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration. 24036950

2013
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 Biomarker GENOMICS_ENGLAND Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. 18796626

2008
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.700 Biomarker CTD_human Variation in complement factor 3 is associated with risk of age-related macular degeneration. 17767156

2007
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 GermlineCausalMutation ORPHANET Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. 15781264

2005
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 Biomarker GENOMICS_ENGLAND Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. 15781264

2005
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation UNIPROT Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion. 7961791

1994
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 Biomarker GENOMICS_ENGLAND Homozygous deficiency of C3 in a patient with repeated infections. 4117597

1972
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 718
Gene Symbol: C3
C3
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 Biomarker CTD_human

Entrez Id: 718
Gene Symbol: C3
C3
CUI: C1332655
Disease: Complement component 3 deficiency
Complement component 3 deficiency 		0.630 Biomarker GENOMICS_ENGLAND Homozygous deficiency of C3 in a patient with repeated infections. 4117597

1972
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.600 Biomarker GENOMICS_ENGLAND A Familial C3GN Secondary to Defective C3 Regulation by Complement Receptor 1 and Complement Factor H. 26471127

2016
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.600 Biomarker GENOMICS_ENGLAND A Familial C3GN Secondary to Defective C3 Regulation by Complement Receptor 1 and Complement Factor H. 26471127

2016
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.600 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133

2010
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.600 Biomarker GENOMICS_ENGLAND Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. 18796626

2008
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.600 GeneticVariation UNIPROT Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. 18796626

2008
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C2752037
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 		0.600 Biomarker GENOMICS_ENGLAND Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. 15781264

2005
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.600 Biomarker CTD_human

Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		0.500 Biomarker CTD_human Resveratrol ameliorates renal damage, increases expression of heme oxygenase-1, and has anti-complement, anti-oxidative, and anti-apoptotic effects in a murine model of membranous nephropathy. 25954969

2015
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.500 Biomarker CTD_human Complement component 3 inhibition by an antioxidant is neuroprotective after cerebral ischemia and reperfusion in mice. 23199288

2013
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery 		0.500 Biomarker CTD_human Complement component 3 inhibition by an antioxidant is neuroprotective after cerebral ischemia and reperfusion in mice. 23199288

2013
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C1969651
Disease: Macular Degeneration, Age-Related, 9
Macular Degeneration, Age-Related, 9 		0.500 GeneticVariation UNIPROT Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. 24036952

2013
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C1969651
Disease: Macular Degeneration, Age-Related, 9
Macular Degeneration, Age-Related, 9 		0.500 GeneticVariation UNIPROT Complement C3 variant and the risk of age-related macular degeneration. 17634448

2007