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: C0220994
Disease: Hyperammonemia
Hyperammonemia
0.400 Biomarker GENOMICS_ENGLAND Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. 29205472

2018

Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
0.400 Biomarker GENOMICS_ENGLAND Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. 28778788

2018

Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
0.400 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: C0220994
Disease: Hyperammonemia
Hyperammonemia
0.400 Biomarker GENOMICS_ENGLAND [MEGDEL syndrome with an SERAC1 mutation: a case report]. 28482397

2017

Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
0.400 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: C0220994
Disease: Hyperammonemia
Hyperammonemia
0.400 Biomarker GENOMICS_ENGLAND Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. 22683713

2012

Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
0.400 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