Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.700 GeneticVariation disease UNIPROT De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. 24174593 2013
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.700 Biomarker disease GENOMICS_ENGLAND De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. 24174593 2013
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.700 GeneticVariation disease UNIPROT INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. 22187985 2011
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.700 CausalMutation disease CLINVAR INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. 22187985 2011
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.700 GermlineCausalMutation disease ORPHANET INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. 22187985 2011
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.700 GeneticVariation disease CLINVAR
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.700 Biomarker disease CTD_human