C3, complement C3, 718

N. diseases: 343; N. variants: 49
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND A Familial C3GN Secondary to Defective C3 Regulation by Complement Receptor 1 and Complement Factor H. 26471127 2016
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. 18796626 2008
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 GermlineCausalMutation disease ORPHANET Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. 15781264 2005
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. 15781264 2005
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion. 7961791 1994
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Homozygous deficiency of C3 in a patient with repeated infections. 4117597 1972
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
CUI: C3151071
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human