rs387907037, INF2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
0.800 GeneticVariation UNIPROT Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons. 25676889 2015
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
0.800 GeneticVariation UNIPROT A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis. 24750328 2014
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
0.800 GeneticVariation UNIPROT Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy. 25165188 2014
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
0.800 GeneticVariation UNIPROT De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. 24174593 2013
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
0.800 GeneticVariation UNIPROT INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. 22187985 2011
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
0.800 CausalMutation CLINVAR
Renal glomerular disease
CUI: C0268731
Disease: Renal glomerular disease
0.010 GeneticVariation BEFREE In addition, we identified a patient with a sporadic CMT-associated glomerulopathy carrying a known INF2 mutation: p. L128P. 22961558 2013