Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Distal Hereditary Motor Neuropathy, Type II
0.320 GeneticVariation disease BEFREE Mutations in HSPB1 result in the development of a late-onset, distal hereditary motor neuropathy type II (dHMN) and axonal Charcot-Marie Tooth disease with sensory involvement (CMT2F). 28797631 2017
Distal Hereditary Motor Neuropathy, Type II
0.320 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
Distal Hereditary Motor Neuropathy, Type II
0.320 GermlineCausalMutation disease ORPHANET Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. 15122254 2004