Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362

2018
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893

2017
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation CLINVAR Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26976520

2016