Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.450 Biomarker phenotype BEFREE Bi-allelic mutations in any of these transporter proteins disrupt the manganese equilibrium and lead to neurological disease: Hypermanganesaemia with dystonia 1 (SLC30A10 deficiency) and hypermanganesaemia with dystonia 2 (SLC39A14 deficiency) are characterised by manganese neurotoxicity while SLC39A8 mutations cause a congenital disorder of glycosylation type IIn due to Mn deficiency. 31089831 2019
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.450 GeneticVariation phenotype BEFREE A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism. 31288771 2019
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.450 GeneticVariation phenotype BEFREE New subtypes of neuronal brain iron accumulation have been delineated and linked to mutations in C19orf12 and WDR45, while a new treatable form of dystonia with brain manganese deposition related to mutations in SLC30A10 has been described. 23757263 2013
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.450 Biomarker phenotype BEFREE In just over a year, four new genes have been shown to cause primary dystonia (CIZ1, ANO3, TUBB4A and GNAL), PRRT2 has been identified as the cause of paroxysmal kinesigenic dystonia and other genes, such as SLC30A10 and ATP1A3, have been linked to more complicated forms of dystonia or new phenotypes. 23775978 2013
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.450 GeneticVariation phenotype BEFREE Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. 22926781 2012
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.450 Biomarker phenotype CTD_human Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. 22926781 2012
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.450 Biomarker phenotype HPO