Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
0.120 Biomarker phenotype BEFREE Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>. 31068484 2019
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
0.120 CausalMutation phenotype CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
0.120 GeneticVariation phenotype BEFREE Mutations in the spastic paraplegia 7 (SPG7) gene encoding paraplegin are responsible for autosomal recessive hereditary spasticity. 23065789 2012