Disease: Hypermanganesemia with dystonia 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879253766
rs879253766
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C4310765
Disease:
Hypermanganesemia with dystonia 2 		0.800 GeneticVariation UNIPROT Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. 27231142 2016
dbSNP: rs879253766
rs879253766
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
CUI: C4310765
Disease:
Hypermanganesemia with dystonia 2 		A 0.800 CausalMutation CLINVAR