Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Mitochondrial medicine in the omics era. | 29903433 | 2018 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
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 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. | 26637979 | 2015 | ||||
|
0.710 | GermlineCausalMutation | disease | ORPHANET | SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. | 26637979 | 2015 | ||||
|
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 | ||||
|
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 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. | 26637979 | 2015 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | |||||||
|
0.710 | Biomarker | disease | CTD_human |