Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 GeneticVariation disease BEFREE Genetic analysis according to the Dutch guidelines of FSGS revealed a mutation in INF2. 26951353 2017
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 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 2016
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 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 2016
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 GeneticVariation disease BEFREE Novel mutations in the inverted formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis. 26039629 2016
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 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
0.500 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
0.500 GeneticVariation disease BEFREE A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis. 24750328 2015
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 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
0.500 GeneticVariation disease BEFREE In our center, more than 30% (278/911) of kidney transplant (KTx) recipients were diagnosed with a causal nephropathy: Prevalence of rare genetic disorders in this group was 4.32% (12/278), including 2,8-dihydroxyadeninuria (2,8-DHA) disease (n = 2), HNF-1B-associated nephropathy (n = 2), UMOD-related nephropathy (n = 5), Fabry disease (n = 1), INF2 focal segmental glomerulosclerosis (n = 1), and Senior-Løken syndrome (n = 1). 24961278 2015
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 GeneticVariation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 Biomarker disease BEFREE Diagnostic screening of INF2 is strongly recommended in isolated patients presenting with CMT disease and FSGS. 24174593 2014
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 GeneticVariation disease BEFREE Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy. 25165188 2014
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 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
0.500 GeneticVariation disease BEFREE A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis. 22971997 2013
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 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
0.500 GeneticVariation disease BEFREE Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. 23014460 2013
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 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
0.500 GeneticVariation disease BEFREE Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. 21866090 2012
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 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
0.500 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
0.500 GeneticVariation disease BEFREE INF2 mutations appear to cause many cases of FSGS-associated Charcot-Marie-Tooth neuropathy, showing that INF2 is involved in a disease affecting both the kidney glomerulus and the peripheral nervous system. 22187985 2011
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 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
0.500 Biomarker disease CTD_human Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. 20023659 2010
Entrez Id: 64423
Gene Symbol: INF2
INF2
0.500 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
0.500 GeneticVariation disease BEFREE Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. 20023659 2010