SLC6A3, solute carrier family 6 member 3, 6531

N. diseases: 373; N. variants: 38
Disease: Parkinsonism-Dystonia, Infantile ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs431905514
rs431905514
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C2751067
Disease:
Parkinsonism-Dystonia, Infantile 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs747783826
rs747783826
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C2751067
Disease:
Parkinsonism-Dystonia, Infantile 		0.010 GeneticVariation BEFREE Importantly, both drugs rescue DAT maturation and functional activity of the DTDS-associated mutations A314V and R445C. 27555326 2016
dbSNP: rs267607068
rs267607068
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C2751067
Disease:
Parkinsonism-Dystonia, Infantile 		0.010 GeneticVariation BEFREE Here, we analyzed 2 unrelated consanguineous families with infantile parkinsonism-dystonia (IPD) syndrome and identified homozygous missense SLC6A3 mutations (p.L368Q and p.P395L) in both families. 19478460 2009
dbSNP: rs267607069
rs267607069
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3
CUI: C2751067
Disease:
Parkinsonism-Dystonia, Infantile 		0.010 GeneticVariation BEFREE Here, we analyzed 2 unrelated consanguineous families with infantile parkinsonism-dystonia (IPD) syndrome and identified homozygous missense SLC6A3 mutations (p.L368Q and p.P395L) in both families. 19478460 2009