Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
0.050 Biomarker disease BEFREE Missense mutations in the gene encoding small heat shock protein HSPB1 (HSP27) have been associated with hereditary neuropathies including dHMN. 31630804 2020
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
0.050 GeneticVariation disease BEFREE We note that numerous HSP27 mutations associated with inherited neuropathies cluster to this dynamic region. 30842409 2019
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
0.050 Biomarker disease BEFREE Our findings suggest that HSPB1 mutations result in two phenotypes of inherited neuropathies and extend the phenotypic spectrum of HSPB1-related disorders. 29381233 2018
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
0.050 GeneticVariation disease BEFREE The functional consequences of HSPB1 mutations associated with hereditary neuropathy are unknown. 28797631 2017
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
0.050 Biomarker disease BEFREE HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients. 22176143 2011