SLC30A10, solute carrier family 30 member 10, 55532

N. diseases: 120; N. variants: 22
Disease: Polycythemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.420 GeneticVariation disease BEFREE The first known disease of inherited Mn excess, identified in 2012, is caused by mutations in the metal exporter SLC30A10 and is characterized by Mn excess, dystonia, cirrhosis, and polycythemia. 31527311 2019
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.420 GeneticVariation disease BEFREE A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism. 31288771 2019
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.420 Biomarker disease CTD_human Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. 22926781 2012
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.420 Biomarker disease HPO