Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0311394
Disease:
Difficulty walking 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0026850
Disease:
Muscular Dystrophy 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C1836150
Disease:
Gait imbalance 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C1836296
Disease:
Muscle Weakness Lower Limb 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0024031
Disease:
Low Back Pain 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0026848
Disease:
Myopathy 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0234182
Disease:
Gowers sign 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0020538
Disease:
Hypertensive disease 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0751336
Disease:
Distal Muscular Dystrophies 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0427149
Disease:
Gait, Drop Foot 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0023798
Disease:
Lipoma 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0850703
Disease:
Frequent falls 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C1698196
Disease:
Muscle Weakness Upper Limb 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0235025
Disease:
Peripheral motor neuropathy 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0856863
Disease:
Broad-based gait 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0852413
Disease:
Abnormal muscle tone 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0240421
Disease:
Progressive muscle weakness 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0239067
Disease:
Difficulty walking up stairs 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C1847766
Disease:
Shoulder girdle muscle atrophy 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
dbSNP: rs104894345
rs104894345
Entrez Id: 26353;107984440
Gene Symbol: HSPB8;LOC107984440
HSPB8;LOC107984440
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.720 GeneticVariation BEFREE Missense mutations, such as K141N, in the small heat shock protein HSPB8 are known to cause distal hereditary motor neuropathy 2A (dHMN2A) or Charcot-Marie-Tooth neuropathy type 2L (CMT2L). 28747872 2017
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0026850
Disease:
Muscular Dystrophy 		T 0.700 GeneticVariation CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893 2017
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C1836150
Disease:
Gait imbalance 		T 0.700 GeneticVariation CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893 2017
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0240421
Disease:
Progressive muscle weakness 		T 0.700 GeneticVariation CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893 2017
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0234182
Disease:
Gowers sign 		T 0.700 GeneticVariation CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893 2017
dbSNP: rs1565930588
rs1565930588
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0311394
Disease:
Difficulty walking 		T 0.700 GeneticVariation CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893 2017