Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 Biomarker disease GENOMICS_ENGLAND Atypical Neurologic Phenotype and Novel SLC30A10 Mutation in Two Brothers with Hereditary Hypermanganesemia. 29179235 2018
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 GeneticVariation disease BEFREE Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation. 29193034 2018
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 GeneticVariation disease BEFREE Recent studies found that mutations in the human SLC30A10 gene, which encodes a manganese (Mn) efflux transporter, are associated with hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC). 28692648 2017
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 GeneticVariation disease BEFREE Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. 27117033 2016
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 Biomarker disease GENOMICS_ENGLAND Manganese transport disorder: novel SLC30A10 mutations and early phenotypes. 25778823 2015
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 GeneticVariation disease UNIPROT SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity. 25319704 2014
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 Biomarker disease CTD_human Mutations in the SLC30A10 gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia. 22926781 2012
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 GermlineCausalMutation disease ORPHANET Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. 22341972 2012
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 GeneticVariation disease UNIPROT Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. 22341971 2012
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 GeneticVariation disease BEFREE Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. 22341971 2012
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 GeneticVariation disease UNIPROT Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. 22341972 2012
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 Biomarker disease CTD_human Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. 22341971 2012
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 Biomarker disease GENOMICS_ENGLAND Mutations in the SLC30A10 gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia. 22926781 2012
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.740 CausalMutation disease CLINVAR
Entrez Id: 27032
Gene Symbol: ATP2C1
ATP2C1
0.010 Biomarker disease BEFREE These findings suggest that either activating ATP2C1 or restoring the Mn-induced trafficking of ATP2C1 can reduce Mn accumulation, providing a possible target for treating HMDPC. 28692648 2017