DisGeNET - a database of gene-disease associations

HSPB8, heat shock protein family B (small) member 8, 26353

N. diseases: 122; N. variants: 6

Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA ×

Variant: rs104894345 ×

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:

rs104894345

Entrez Id:	26353;107984440
Gene Symbol:	HSPB8;LOC107984440

HSPB8;LOC107984440

CUI:	C1834692
Disease:

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA

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:

rs104894345

Entrez Id:	26353;107984440
Gene Symbol:	HSPB8;LOC107984440

HSPB8;LOC107984440

CUI:	C1834692
Disease:

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA

0.800

GeneticVariation

UNIPROT

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.

15122253

2004

dbSNP:

rs104894345

Entrez Id:	26353;107984440
Gene Symbol:	HSPB8;LOC107984440

HSPB8;LOC107984440

CUI:	C1834692
Disease:

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA

0.800

CausalMutation

CLINVAR