Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917763
rs121917763
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.710 CausalMutation CLINVAR Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs121917763
rs121917763
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.710 CausalMutation CLINVAR Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488

2013
dbSNP: rs121917763
rs121917763
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.710 CausalMutation CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833

2010
dbSNP: rs121917763
rs121917763
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.710 CausalMutation CLINVAR Tyrosine hydroxylase deficiency with severe clinical course. 19282209

2009
dbSNP: rs121917763
rs121917763
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.710 CausalMutation CLINVAR Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. 12891655

2003
dbSNP: rs121917763
rs121917763
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.710 CausalMutation CLINVAR Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. 8817341

1996
dbSNP: rs121917763
rs121917763
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.710 CausalMutation CLINVAR Magnetic stimulation of the nervous system. 2019643

1991
dbSNP: rs146170087
rs146170087
C19orf12
CUI: C0013421
Disease: Dystonia
Dystonia 		C 0.710 CausalMutation CLINVAR

dbSNP: rs104893665
rs104893665
SPR
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.700 CausalMutation CLINVAR Very early pattern of movement disorders in sepiapterin reductase deficiency. 24212389

2013
dbSNP: rs104893665
rs104893665
SPR
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.700 CausalMutation CLINVAR Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. 23430877

2012
dbSNP: rs104893665
rs104893665
SPR
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.700 CausalMutation CLINVAR Whole-genome sequencing for optimized patient management. 21677200

2011
dbSNP: rs104893665
rs104893665
SPR
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. 21431957

2011
dbSNP: rs104893665
rs104893665
SPR
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.700 CausalMutation CLINVAR Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. 11443547

2001
dbSNP: rs1057518942
rs1057518942
NPC1
CUI: C0013421
Disease: Dystonia
Dystonia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0013421
Disease: Dystonia
Dystonia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167290
rs1114167290
MYO5A
CUI: C0013421
Disease: Dystonia
Dystonia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1131692231
rs1131692231
CYFIP2
CUI: C0013421
Disease: Dystonia
Dystonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs113371321
rs113371321
NPC1
CUI: C0013421
Disease: Dystonia
Dystonia 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1135401746
rs1135401746
GNB1
CUI: C0013421
Disease: Dystonia
Dystonia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs113994063
rs113994063
EIF2B5
CUI: C0013421
Disease: Dystonia
Dystonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
CUI: C0013421
Disease: Dystonia
Dystonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121917747
rs121917747
SPR
CUI: C0013421
Disease: Dystonia
Dystonia 		T 0.700 CausalMutation CLINVAR Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. 16917893

2006
dbSNP: rs121917762
rs121917762
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1247665387
rs1247665387
FA2H
CUI: C0013421
Disease: Dystonia
Dystonia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1372180906
rs1372180906
TH ; MIR4686
CUI: C0013421
Disease: Dystonia
Dystonia 		T 0.700 CausalMutation CLINVAR Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. 21465550

2011