Disease: Focal Segmental Glomerulosclerosis 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		0.700 Biomarker disease GENOMICS_ENGLAND Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease. 27974406 2017
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		0.700 GeneticVariation disease UNIPROT Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy. 25165188 2014
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		0.700 Biomarker disease GENOMICS_ENGLAND Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy. 25165188 2014
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		0.700 GeneticVariation disease UNIPROT A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis. 22971997 2013
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		0.700 GeneticVariation disease UNIPROT Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. 23014460 2013
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		0.700 GeneticVariation disease UNIPROT Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. 21866090 2012
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		0.700 CausalMutation disease CLINVAR INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. 22187985 2011
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		0.700 GeneticVariation disease UNIPROT Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. 21258034 2011
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		0.700 GeneticVariation disease UNIPROT Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. 20023659 2010
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		0.700 Biomarker disease CTD_human