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: 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: 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: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 Biomarker CTD_human