CAPG, capping actin protein, gelsolin like, 822

N. diseases: 111; N. variants: 1
Disease: Hemolytic-Uremic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.060 GeneticVariation disease BEFREE Apparently, the alternative pathway convertase C3bBb is central for the pathophysiology of HUS as gene mutations of the components (C3 and Factor B) or of regulators (Factor H, Factor I and MCP/CD46) are observed in the genetic form of HUS. 19190803 2009
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.060 GeneticVariation disease BEFREE The outcome of the disease reported here indicates that MCP mutation and complete paternal uniparental disomy of chromosome 1 could have an additive effect in determining the severity of the HUS phenotype. 17261436 2007
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.060 GeneticVariation disease BEFREE However, we report the case of a 32-year-old woman with an MCP mutation who developed a recurrence of HUS after renal transplantation. 17617869 2007
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.060 Biomarker disease BEFREE MCP-HUS has a better prognosis and a better outcome after transplantation than either CFH-HUS or IF-HUS. 16968692 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.060 Biomarker disease BEFREE MCP could be a second putative candidate gene for D-HUS. 14615110 2003
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.060 GeneticVariation disease BEFREE We hypothesized that MCP mutations could predispose to HUS, and we sequenced MCP coding exons in affected individuals from 30 families. 14566051 2003