Disease: Renal glomerular disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.340 GeneticVariation group BEFREE Several reports have shown a high prevalence of mutations (75%) in the inverted formin gene (INF2) in patients with CMT-associated glomerulopathy, suggesting that these mutations are a common cause of the dual phenotype. 25439738 2015
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.340 GeneticVariation group BEFREE De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. 24174593 2013
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.340 GeneticVariation group BEFREE In this study, we report two cases of CMT-associated glomerulopathy that both showed INF2 mutations. 22961558 2013
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.340 GeneticVariation group BEFREE INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. 22187985 2011
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.340 Biomarker group GENOMICS_ENGLAND