Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Diffuse Cerebral Sclerosis of Schilder
0.340 Biomarker disease CTD_human POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. 20138553 2010
Diffuse Cerebral Sclerosis of Schilder
0.340 Biomarker disease CTD_human Alpers syndrome with prominent white matter changes. 17923349 2008
Diffuse Cerebral Sclerosis of Schilder
0.340 GeneticVariation disease LHGDN Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. 18487244 2008
Diffuse Cerebral Sclerosis of Schilder
0.340 GeneticVariation disease LHGDN Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. 18294203 2008
Diffuse Cerebral Sclerosis of Schilder
0.340 Biomarker disease CTD_human Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma. 18716558 2008
Diffuse Cerebral Sclerosis of Schilder
0.340 GeneticVariation disease LHGDN Molecular diagnosis of Alpers syndrome. 16545482 2006
Diffuse Cerebral Sclerosis of Schilder
0.340 GeneticVariation disease LHGDN POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. 16130100 2005