Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770272088
rs770272088
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C1847823
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		C 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 25429913 2014
dbSNP: rs770272088
rs770272088
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C1847823
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		C 0.700 CausalMutation CLINVAR Structure and properties of G84R and L99M mutants of human small heat shock protein HspB1 correlating with motor neuropathy. 23948568 2013
dbSNP: rs770272088
rs770272088
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C1847823
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		C 0.700 CausalMutation CLINVAR SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. 21892769 2012
dbSNP: rs770272088
rs770272088
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C1847823
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		C 0.700 CausalMutation CLINVAR Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27). 18344398 2008
dbSNP: rs770272088
rs770272088
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C1847823
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		C 0.700 CausalMutation CLINVAR Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. 18832141 2008