Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0749870
Disease: Upper motor neuron signs
Upper motor neuron signs
0.010 GeneticVariation phenotype BEFREE The phenotypic features of patients with mutations in HSPB8, HSPB1, BSCL2 and SETX fit within the distal HMN classification, with only one exception; a C-terminal HSPB1-mutation was associated with upper motor neuron signs. 18325928 2008