Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146170087
rs146170087
0.710 GeneticVariation BEFREE We report a compound heterozygous c.[32C>T];[205G>A;424A>G] (p.[Thr11Met];[Gly69Arg;Lys142Glu]) Czech patient who manifested with right foot dystonia, impaired handwriting, attention deficit, and signs of iron accumulation on brain MRI. 30088953

2018

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

2013

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

2010

dbSNP: rs121917763
rs121917763
TH
G 0.710 CausalMutation CLINVAR Tyrosine hydroxylase deficiency with severe clinical course. 19282209

2009

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

2003

dbSNP: rs121917763
rs121917763
TH
0.710 GeneticVariation BEFREE The phenotype of AR-DRD with the Leu205Pro mutation in the TH gene, which produces a severe decrease in TH activity to 1.5% of that of the wild type, was severe, not dystonia/Segawa's syndrome, but early-onset parkinsonism. 10661862

1999

dbSNP: rs121917763
rs121917763
TH
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
G 0.710 CausalMutation CLINVAR Magnetic stimulation of the nervous system. 2019643

1991

dbSNP: rs146170087
rs146170087
C 0.710 CausalMutation CLINVAR

dbSNP: rs1447313633
rs1447313633
C 0.700 GeneticVariation CLINVAR Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 31036918

2019

dbSNP: rs1559296368
rs1559296368
A 0.700 GeneticVariation CLINVAR Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 31036918

2019

dbSNP: rs531630376
rs531630376
A 0.700 GeneticVariation CLINVAR Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 30459466

2019

dbSNP: rs546151500
rs546151500
A 0.700 GeneticVariation CLINVAR Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 31036918

2019

dbSNP: rs771610752
rs771610752
TH
A 0.700 CausalMutation CLINVAR Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis. 28087438

2017

dbSNP: rs139455627
rs139455627
A 0.700 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016

dbSNP: rs1569151872
rs1569151872
AA 0.700 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016

dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
G 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016

dbSNP: rs879253799
rs879253799
C 0.700 CausalMutation CLINVAR Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 26612766

2016

dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. 26276013

2015

dbSNP: rs63750687
rs63750687
T 0.700 GeneticVariation CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961

2014

dbSNP: rs748787734
rs748787734
C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942

2014

dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014

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

2013

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

2012