Gene: C3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 718
Gene Symbol: C3
C3 		0.600 Biomarker disease BEFREE Thus, our data provide in vivo modeling evidence that gain-of-function changes in complement C3 drive aHUS. 30714990 2019
Entrez Id: 718
Gene Symbol: C3
C3 		0.600 Biomarker disease BEFREE We performed sequence analysis of the complement genes complement factor H (CFH), complement factor I (CFI), and complement C3 (C3) in 866 aHUS/C3G and 697 AMD patients. 29888403 2018
Entrez Id: 718
Gene Symbol: C3
C3 		0.600 Biomarker disease BEFREE Higher AP activation and C3a generation in GMVECs than in BMVECs, coupled with an increase in C3aR production in TNF-stimulated GMVECs, provides a possible explanation for the predominance of renal damage, and the absence of cerebral injury, in individuals with episodes of aHUS and TA-TMA. 29555686 2018
Entrez Id: 718
Gene Symbol: C3
C3 		0.600 GeneticVariation disease BEFREE Disease Recurrence After Early Discontinuation of Eculizumab in a Patient With Atypical Hemolytic Uremic Syndrome With Complement C3 I1157T Mutation. 26840081 2016
Entrez Id: 718
Gene Symbol: C3
C3 		0.600 GeneticVariation disease BEFREE Different complement C3 gene mutations have been associated with different outcomes in aHUS. 26572892 2016
Entrez Id: 718
Gene Symbol: C3
C3 		0.600 Biomarker disease 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 		0.600 GeneticVariation disease BEFREE Mutations in complement C3 from aHUS patients. 25858888 2015
Entrez Id: 718
Gene Symbol: C3
C3 		0.600 GeneticVariation disease BEFREE The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome. 25879158 2015
Entrez Id: 718
Gene Symbol: C3
C3 		0.600 GeneticVariation disease BEFREE Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome. 25608561 2015
Entrez Id: 718
Gene Symbol: C3
C3 		0.600 GeneticVariation disease BEFREE Recently, heterozygous gain-of-function mutations in the complement C3 gene have been found in patients with aHUS. 19590060 2009
Entrez Id: 718
Gene Symbol: C3
C3 		0.600 GeneticVariation disease BEFREE Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. 18796626 2008
Entrez Id: 718
Gene Symbol: C3
C3 		0.600 Biomarker disease CTD_human