SLC30A10, solute carrier family 30 member 10, 55532

N. diseases: 120; N. variants: 22
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		0.740 Biomarker disease GENOMICS_ENGLAND Atypical Neurologic Phenotype and Novel SLC30A10 Mutation in Two Brothers with Hereditary Hypermanganesemia. 29179235 2018
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		0.740 GeneticVariation disease BEFREE Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation. 29193034 2018
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		0.740 GeneticVariation disease BEFREE Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. 27117033 2016
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		0.740 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		0.740 Biomarker disease GENOMICS_ENGLAND Manganese transport disorder: novel SLC30A10 mutations and early phenotypes. 25778823 2015
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		0.740 GeneticVariation disease UNIPROT Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. 22341971 2012
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		0.740 GeneticVariation disease BEFREE Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. 22341971 2012
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		0.740 Biomarker disease CTD_human Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. 22341971 2012
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		0.740 CausalMutation disease CLINVAR