Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia
0.110 Biomarker phenotype BEFREE Two individuals with pyruvate dehydrogenase (PDH) deficiency due to missense mutations in the gene for the E1alpha subunit (PDHA1) presented during childhood with dystonia. 15473177 2004
CUI: C0013421
Disease: Dystonia
Dystonia
0.110 Biomarker phenotype HPO