rs863225022, HSPB1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
0.700 GeneticVariation CLINVAR Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience. 26989944 2016
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
0.700 GeneticVariation CLINVAR Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 25547330 2015
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
0.700 CausalMutation CLINVAR Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 25547330 2015
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
0.700 CausalMutation CLINVAR MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease. 21611841 2012
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
0.700 GeneticVariation CLINVAR MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease. 21611841 2012
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
0.700 GeneticVariation CLINVAR HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients. 22176143 2011
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
0.700 CausalMutation CLINVAR HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients. 22176143 2011
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
0.700 GeneticVariation CLINVAR Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. 15122254 2004
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
0.700 GeneticVariation UNIPROT
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
0.010 GeneticVariation BEFREE Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. 25547330 2015