Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907035
rs387907035
Entrez Id: 64423
Gene Symbol: INF2
INF2
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
dbSNP: rs387907035
rs387907035
Entrez Id: 64423
Gene Symbol: INF2
INF2
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
dbSNP: rs387907035
rs387907035
Entrez Id: 64423
Gene Symbol: INF2
INF2
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
dbSNP: rs387907035
rs387907035
Entrez Id: 64423
Gene Symbol: INF2
INF2
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
dbSNP: rs387907035
rs387907035
Entrez Id: 64423
Gene Symbol: INF2
INF2
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
dbSNP: rs387907035
rs387907035
Entrez Id: 64423
Gene Symbol: INF2
INF2
CUI: C3280845
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs387907035
rs387907035
Entrez Id: 64423
Gene Symbol: INF2
INF2
CUI: C3280845
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		T 0.800 CausalMutation CLINVAR