Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		0.710 GeneticVariation disease 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: 64116
Gene Symbol: SLC39A8
SLC39A8 		0.710 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		0.710 Biomarker disease GENOMICS_ENGLAND Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. 26637978 2015
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		0.710 GeneticVariation disease UNIPROT SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. 26637979 2015
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		0.710 GermlineCausalMutation disease ORPHANET SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. 26637979 2015
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		0.710 GermlineCausalMutation disease ORPHANET Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. 26637978 2015
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		0.710 GeneticVariation disease UNIPROT Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. 26637978 2015
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		0.710 Biomarker disease GENOMICS_ENGLAND SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. 26637979 2015
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		0.710 CausalMutation disease CLINVAR
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8 		0.710 Biomarker disease CTD_human
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14 		0.010 GeneticVariation disease 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 		0.010 GeneticVariation disease 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