Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE Dominant missense mutations in INF2 are linked to two diseases: focal segmental glomerulosclerosis, a kidney disease, and Charcot-Marie-Tooth disease, a neuropathy. 30962575 2019
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE Heterozygous mutations in the inverted formin-2 (INF2) gene provoke focal segmental glomerulosclerosis (FSGS) and intermediate Charcot-Marie-Tooth (CMT) disease with FSGS. 30680856 2019
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE In this case series, we present 3 adult patients who presented with advanced renal disease with the histological picture of FSGS and proved to have a genetic cause of the disease, namely, variants in INF2, COL4A4 and HNF1B, respectively. 31096240 2019
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 Biomarker disease BEFREE Mutational analysis of INF2 was performed on 109 patients (mean age at onset 41.44 ± 18.91 years) with FSGS or minimal change disease (MCD); and also in 6 patients without renal biopsy who had already developed chronic kidney disease (CKD)/ESRD at the time of diagnosis. 30126379 2018
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE INF2 mutations in patients with isolated FSGS are clustered in exons 2 to 4, encoding the diaphanous inhibitory domain, involved in the regulation of the podocyte actin cytoskeleton. 29038887 2018
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: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.700 Biomarker disease GENOMICS_ENGLAND Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease. 27974406 2017
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE Mutations in inverted formin 2 (INF2), a member of the formin family of actin-regulating proteins, have recently been associated with a familial cause of nephrotic syndrome characterized by FSGS. 26764407 2016
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients. 25943269 2016
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE Genetic analysis according to the Dutch guidelines of FSGS revealed a mutation in INF2. 26951353 2016
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE FSGS-causing INF2 mutations impair these interactions and disrupt the ability of INF2 to regulate Rho/Dia-mediated actin dynamics in vitro. 27350175 2016
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE Novel mutations in the inverted formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis. 26039629 2015
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE Dominant INF2 mutations cause focal segmental glomerulosclerosis (FSGS), a kidney disease, and FSGS+Charcot-Marie-Tooth neuropathy. 25771894 2015
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE Recent advances show that human focal segmental glomerulosclerosis (FSGS) is a primary podocytopathy caused by podocyte-specific gene mutations including NPHS1, NPHS2, WT-1, LAMB2, CD2AP, TRPC6, ACTN4 and INF2. 26156092 2015
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE While earlier reports suggested that mutations causing FSGS-CMT are restricted to exons 2 and 3 of the INF2 gene, we found one CMT-FSGS causing mutation (p.Glu184Lys) in exon 4 extending the critical region of INF2 for rapid CMT-FSGS molecular genetic diagnosis. 25676889 2015
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.700 GeneticVariation disease UNIPROT Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons. 25676889 2015
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE Recently, mutations in the INF2 gene, which encodes inverted formin-2, were identified in patients with focal segmental glomerulosclerosis and a dominant intermediate form of CMT (CMTDIE, OMIM #614455). 24487800 2014
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE We confirmed the high incidence of INF2 mutations in families with AD FSGS. 25165188 2014
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE The INF2 mutation appears to be a major cause of CMT with FSGS. 24750328 2014
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 Biomarker disease GENOMICS_ENGLAND We confirmed the high incidence of INF2 mutations in families with AD FSGS. 25165188 2014
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: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.700 GeneticVariation disease UNIPROT A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis. 24750328 2014
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		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: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.700 GeneticVariation disease BEFREE Thus, this novel mutation in INF2 linked to nonsyndromic FSGS indicates the necessity for full gene sequencing if no mutation is found in the current rapid-screen region of the gene. 22971997 2013