DisGeNET - a database of gene-disease associations

Hypermanganesemia with dystonia 2, C4310765

Variant: rs750281602 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs750281602

rs750281602

SLC39A14

0.800

GeneticVariation

UNIPROT

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

2016

dbSNP:

rs750281602

rs750281602

SLC39A14

G

0.800

CausalMutation

CLINVAR