Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
0.720 GeneticVariation UNIPROT Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. 28778788

2018

Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
0.720 GeneticVariation UNIPROT Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. 23707711

2014

Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
0.720 GeneticVariation UNIPROT Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. 22683713

2012