Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 Biomarker disease HPO
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 GeneticVariation disease CLINVAR
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 Biomarker disease CTD_human These mutations, all within the diaphanous inhibitory domain of INF2, segregate with FSGS in 11 unrelated families and alter highly conserved amino acid residues. 20023659 2010
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 GeneticVariation disease BEFREE These mutations, all within the diaphanous inhibitory domain of INF2, segregate with FSGS in 11 unrelated families and alter highly conserved amino acid residues. 20023659 2010
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 Biomarker disease BEFREE We performed direct genotyping of INF2 in 16 index patients with Charcot-Marie-Tooth neuropathy and FSGS who did not have a mutation in PMP22 or MPZ, encoding peripheral myelin protein 22 and myelin protein zero, respectively. 22187985 2011
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 GeneticVariation disease BEFREE This is the second paper describing a familial case of FSGS associated with INF2 mutations as well as intrafamilial phenotype variability. 20803156 2011
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 Biomarker disease BEFREE In three distinct models of FSGS (5/6-nephrectomy + DOCA-salt; the murine transgenic chronic Thy1.1 model; or the MWF rat) and in human biopsies, the primary injury to induce FSGS associated with focal activation of PECs and the formation of cellular adhesions to the capillary tuft. 21719782 2011
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 GeneticVariation disease BEFREE Mutations in INF2 cause human kidney disease characterized by focal and segmental glomerulosclerosis. 21278336 2011
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 GeneticVariation disease BEFREE Physiologically, INF2 acts in the secretory pathway and is mutated in two human diseases, focal and segmental glomerulosclerosis and Charcot-Marie-Tooth disease. 22879592 2012
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 GeneticVariation disease BEFREE Three of the detected variants were novel and all mutations were confined to exon 4 of INF2, a regulatory region responsible for 90% of all changes reported in FSGS due to INF2 mutations. 21866090 2012
Entrez Id: 64423
Gene Symbol: INF2
INF2
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
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 GeneticVariation disease BEFREE Mutations in inverted formin, FH2, and WH2 domain containing (INF2) are common causes of dominant focal segmental glomerulosclerosis. 22961558 2013
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 GeneticVariation disease BEFREE De novo INF2 mutations may be more common in patients with CMT disease and FSGS in comparison to FSGS alone. 24174593 2013
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 GeneticVariation disease BEFREE Thus, mutations in INF2 are a more common, although still a minor, monogenic cause of familial FSGS when compared with other known autosomal dominant genes associated with FSGS. 23014460 2013
Entrez Id: 64423
Gene Symbol: INF2
INF2
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
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 GeneticVariation disease BEFREE We confirmed the high incidence of INF2 mutations in families with AD FSGS. 25165188 2014
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 GeneticVariation disease BEFREE The INF2 mutation appears to be a major cause of CMT with FSGS. 24750328 2014
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 Biomarker disease GENOMICS_ENGLAND We confirmed the high incidence of INF2 mutations in families with AD FSGS. 25165188 2014
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 GeneticVariation disease BEFREE Novel mutations in the inverted formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis. 26039629 2015
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 GeneticVariation disease BEFREE Dominant INF2 mutations cause focal segmental glomerulosclerosis (FSGS), a kidney disease, and FSGS+Charcot-Marie-Tooth neuropathy. 25771894 2015
Entrez Id: 64423
Gene Symbol: INF2
INF2
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
Entrez Id: 64423
Gene Symbol: INF2
INF2
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
Entrez Id: 64423
Gene Symbol: INF2
INF2
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
Entrez Id: 64423
Gene Symbol: INF2
INF2
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
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.700 GeneticVariation disease BEFREE Genetic analysis according to the Dutch guidelines of FSGS revealed a mutation in INF2. 26951353 2016