Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937568
rs28937568
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C2608087
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		0.800 GeneticVariation UNIPROT Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations. 28144995 2017
dbSNP: rs28937568
rs28937568
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C2608087
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		0.800 GeneticVariation UNIPROT Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases. 25965061 2015
dbSNP: rs28937568
rs28937568
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C2608087
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		0.800 GeneticVariation UNIPROT Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies. 23643870 2013
dbSNP: rs28937568
rs28937568
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C2608087
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		0.800 GeneticVariation UNIPROT Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments. 23728742 2013
dbSNP: rs28937568
rs28937568
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C2608087
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		0.800 GeneticVariation UNIPROT Structure and properties of G84R and L99M mutants of human small heat shock protein HspB1 correlating with motor neuropathy. 23948568 2013
dbSNP: rs28937568
rs28937568
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C2608087
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		0.800 GeneticVariation UNIPROT HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients. 22176143 2011
dbSNP: rs28937568
rs28937568
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C2608087
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		0.800 GeneticVariation UNIPROT A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. 20870250 2010
dbSNP: rs28937568
rs28937568
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C2608087
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		0.800 GeneticVariation UNIPROT Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. 20178975 2010
dbSNP: rs28937568
rs28937568
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C2608087
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		0.800 GeneticVariation UNIPROT A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation. 18952241 2009
dbSNP: rs28937568
rs28937568
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C2608087
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		0.800 GeneticVariation UNIPROT Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. 18832141 2008
dbSNP: rs28937568
rs28937568
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C2608087
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		0.800 GeneticVariation UNIPROT Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. 15122254 2004
dbSNP: rs28937568
rs28937568
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
CUI: C2608087
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		T 0.800 CausalMutation CLINVAR