Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		0.700 GeneticVariation disease UNIPROT Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations. 28144995 2017
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		0.700 GeneticVariation disease CLINVAR
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		0.700 GeneticVariation disease UNIPROT Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. 15122253 2004
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.420 GeneticVariation group CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893 2017
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.420 GeneticVariation group BEFREE Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26718575 2016
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.420 GeneticVariation group CLINVAR Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26976520 2016
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.420 GeneticVariation group CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
CUI: C3711384
Disease: Distal Hereditary Motor Neuropathy, Type II
Distal Hereditary Motor Neuropathy, Type II 		0.390 GeneticVariation disease BEFREE Recently, mutations in both the small heat shock protein 27 (HSP27 or HSPB1) and 22 (HSP22 or HSPB8) genes have been reported to cause autosomal dominant CMT with minimal sensory involvement (CMT 2F/CMT2L) and autosomal dominant distal hereditary motor neuropathy type II (dHMN II). 18832141 2008
CUI: C3711384
Disease: Distal Hereditary Motor Neuropathy, Type II
Distal Hereditary Motor Neuropathy, Type II 		0.390 GeneticVariation disease BEFREE Molecular genetic analysis in a Belgian family with distal hereditary motor neuropathy type II (distal HMN II), demonstrated significant linkage of markers located at chromosome 12q24. 9058425 1997
CUI: C3711384
Disease: Distal Hereditary Motor Neuropathy, Type II
Distal Hereditary Motor Neuropathy, Type II 		0.390 GeneticVariation disease 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
CUI: C3711384
Disease: Distal Hereditary Motor Neuropathy, Type II
Distal Hereditary Motor Neuropathy, Type II 		0.390 GeneticVariation disease BEFREE In two pedigrees with distal hereditary motor neuropathy type II linked to chromosome 12q24.3, we identified the same mutation (K141N) in small heat-shock 22-kDa protein 8 (encoded by HSPB8; also called HSP22). 15122253 2004
CUI: C3711384
Disease: Distal Hereditary Motor Neuropathy, Type II
Distal Hereditary Motor Neuropathy, Type II 		0.390 GeneticVariation disease BEFREE Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. 8817349 1996
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.310 GeneticVariation disease UNIPROT
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 GeneticVariation disease 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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 GeneticVariation disease BEFREE We screened the mutation of HSP27 and HSP22 in 68 Japanese patients with axonal CMT or unclassified CMT and six Japanese patients with distal HMN. 16155736 2005
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 GeneticVariation disease BEFREE Mutations in the small heat-shock protein 22 gene (HSPB8) have been associated with Charcot-Marie-Tooth disease type 2L, distal hereditary motor neuropathy (dHMN) type IIa and, more recently, distal myopathy/myofibrillar myopathy (MFM) with protein aggregates and TDP-43 inclusions. 29029362 2018
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 GeneticVariation disease 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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 GeneticVariation disease BEFREE It seems that the Lys141 site in the alpha-crystallin domain of HSPB8 is regarded as a mutational hot spot for peripheral neuropathy development, and mutations even in the same codon can exhibit different CMT phenotypes. 23796487 2013
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 GeneticVariation disease BEFREE We analyzed the HSPB1 and HSPB8 genes in a large clinically well-characterized series of dHMN and CMT type 2 (CMT2) cases and families using linkage analysis and direct sequencing of these genes. 18832141 2008
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.200 GeneticVariation disease LHGDN The rate of HSP22 gene mutation in Chinese patients with CMT is as low as 0.87%(1/115). 16086267 2005
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.200 GeneticVariation disease BEFREE Here, we studied the effect of mutant HSPB8 in primary fibroblast cultures derived from dHMN patients' skin biopsy. 22595202 2012
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.200 GeneticVariation disease BEFREE Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26718575 2016
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.200 GeneticVariation disease CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893 2017
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.200 GeneticVariation disease BEFREE We previously assigned the disease locus for autosomal dominant hereditary motor neuropathy type II (distal HMN II) within a 13-cM interval at chromosome 12q24.3. 10777663 2000
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		0.200 GeneticVariation disease BEFREE HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes. 21985219 2011