Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
CUI: C0013421
Disease: Dystonia
Dystonia
0.620 Biomarker GENOMICS_ENGLAND Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation. 27186703

2017

Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
CUI: C0013421
Disease: Dystonia
Dystonia
0.620 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
CUI: C0013421
Disease: Dystonia
Dystonia
0.620 Biomarker GENOMICS_ENGLAND Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. 16527507

2006