DisGeNET - a database of gene-disease associations

HSPB1, heat shock protein family B (small) member 1, 3315

N. diseases: 395; N. variants: 31

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121909112

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:

rs121909113

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

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:

rs28937569

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:

rs28939680

Entrez Id:	3315
Gene Symbol:	HSPB1

HSPB1

CUI:	C1847823
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F

0.800

CausalMutation

CLINVAR

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.

27816334

2017

dbSNP:

rs28939680

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:

rs29001571

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:

rs121909112

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:

rs121909113

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

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:

rs28937569

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:

rs28939680

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:

rs29001571

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:

rs557327165

Entrez Id:	3315
Gene Symbol:	HSPB1

HSPB1

CUI:	C1847823
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F

0.800

CausalMutation

CLINVAR

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:

rs28939680

Entrez Id:	3315
Gene Symbol:	HSPB1

HSPB1

CUI:	C1847823
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F

0.800

CausalMutation

CLINVAR

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

23963299

2014

dbSNP:

rs121909112

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:

rs121909112

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:

rs121909112

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:

rs121909113

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:

rs121909113

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:

rs121909113

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

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

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

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:

rs28937569

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