Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781250
rs587781250
HSPB1
T 0.700 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
dbSNP: rs587781250
rs587781250
HSPB1
T 0.700 CausalMutation CLINVAR Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy. 22031878

2011
dbSNP: rs587781250
rs587781250
HSPB1
T 0.700 CausalMutation CLINVAR Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. 20178975

2010
dbSNP: rs587781250
rs587781250
HSPB1
T 0.700 CausalMutation CLINVAR Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy. 20660910

2010
dbSNP: rs587781250
rs587781250
HSPB1
T 0.700 CausalMutation CLINVAR Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. 15122254

2004