Disease: Hypermanganesemia with dystonia 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2 		0.700 GermlineCausalMutation disease ORPHANET Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. 29685658 2018
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2 		0.700 GermlineCausalMutation disease ORPHANET Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system. 29382362 2018
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2 		0.700 GeneticVariation disease UNIPROT Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 27231142 2016
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 27231142 2016
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2 		0.700 GermlineCausalMutation disease ORPHANET Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 27231142 2016
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 27231142 2016
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2 		0.700 Biomarker disease CTD_human
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2 		0.700 CausalMutation disease CLINVAR
CUI: C4310765
Disease: Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia 2 		0.700 Biomarker disease GENOMICS_ENGLAND