C3, complement C3, 718

N. diseases: 343; N. variants: 49
Disease: Atypical Hemolytic Uremic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		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
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		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
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		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
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		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
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.600 GeneticVariation disease BEFREE Different complement C3 gene mutations have been associated with different outcomes in aHUS. 26572892 2016
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND A Familial C3GN Secondary to Defective C3 Regulation by Complement Receptor 1 and Complement Factor H. 26471127 2016
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.600 GeneticVariation disease BEFREE Mutations in complement C3 from aHUS patients. 25858888 2015
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.600 GeneticVariation disease BEFREE The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome. 25879158 2015
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.600 GeneticVariation disease BEFREE Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome. 25608561 2015
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		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
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.600 GeneticVariation disease BEFREE Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. 18796626 2008
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.600 Biomarker disease CTD_human