Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894345
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: rs104894351
rs104894351
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
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: rs104894351
rs104894351
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
rs104894345
Entrez Id: 26353;107984440
Gene Symbol: HSPB8;LOC107984440
HSPB8;LOC107984440
CUI: C1834692
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894351
rs104894351
Entrez Id: 26353;107984440
Gene Symbol: HSPB8;LOC107984440
HSPB8;LOC107984440
CUI: C1834692
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		G 0.800 CausalMutation CLINVAR
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: rs104894345
rs104894345
Entrez Id: 26353;107984440
Gene Symbol: HSPB8;LOC107984440
HSPB8;LOC107984440
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.720 GeneticVariation BEFREE Two mutations (K141E, K141N) in the small heat shock protein (sHSP) HSP22 (HSPB8) are associated with the inherited peripheral motor neuron disorders distal hereditary motor neuropathy type II and axonal Charcot-Marie-Tooth disease type 2L. 16935933 2006
dbSNP: rs104894345
rs104894345
Entrez Id: 26353;107984440
Gene Symbol: HSPB8;LOC107984440
HSPB8;LOC107984440
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		C 0.720 CausalMutation CLINVAR
dbSNP: rs104894345
rs104894345
Entrez Id: 26353;107984440
Gene Symbol: HSPB8;LOC107984440
HSPB8;LOC107984440
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		T 0.720 CausalMutation CLINVAR
dbSNP: rs104894351
rs104894351
Entrez Id: 26353;107984440
Gene Symbol: HSPB8;LOC107984440
HSPB8;LOC107984440
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.710 GeneticVariation BEFREE Two mutations (K141E, K141N) in the small heat shock protein (sHSP) HSP22 (HSPB8) are associated with the inherited peripheral motor neuron disorders distal hereditary motor neuropathy type II and axonal Charcot-Marie-Tooth disease type 2L. 16935933 2006
dbSNP: rs104894351
rs104894351
Entrez Id: 26353;107984440
Gene Symbol: HSPB8;LOC107984440
HSPB8;LOC107984440
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		G 0.710 CausalMutation CLINVAR
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