Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
0.110 GeneticVariation phenotype BEFREE We describe a sporadic 42-year-old man with MTS presenting with postlingual deafness, adult-onset progressive dystonia with marked arm tremor, mild spasticity of the legs, and visual disturbance due to a novel mutation (g to a transition at the invariant gt of the 5' splice donor site of exon 1) in the DDP1 gene. 17534980 2007
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
0.110 Biomarker phenotype HPO