Disease: Charcot-Marie-Tooth Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs29001571
rs29001571
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.020 GeneticVariation BEFREE Twenty-one members of a five generation Sardinian family have been studied, including thirteen members affected by peroneal muscular atrophy and proved heterozygous for the known HSP27 R127W mutation. 20660910 2010
dbSNP: rs29001571
rs29001571
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.020 GeneticVariation BEFREE The C379T mutation in Hsp27 also causes CMT disease type 2, except for distal hereditary motor neuropathy, and the phenotypes are distinct from the family with CMT disease type 2F described previously. 16087758 2005