Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771610752
rs771610752
TH
A 0.700 CausalMutation CLINVAR Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700

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

2011
dbSNP: rs1372180906
rs1372180906
TH ; MIR4686
T 0.700 CausalMutation CLINVAR Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. 21465550

2011
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. 20823027

2011
dbSNP: rs771610752
rs771610752
TH
A 0.700 CausalMutation CLINVAR Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467

2010
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833

2010
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2. 20492352

2010
dbSNP: rs1372180906
rs1372180906
TH ; MIR4686
T 0.700 CausalMutation CLINVAR Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 17696123

2007
dbSNP: rs121917747
rs121917747
SPR
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: rs104893665
rs104893665
SPR
G 0.700 CausalMutation CLINVAR Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. 11443547

2001
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). 10407773

1999
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. 9703425

1998
dbSNP: rs80358233
rs80358233
TOR1A
T 0.700 CausalMutation CLINVAR The role of DYT1 in primary torsion dystonia in Europe. 9874484

1998
dbSNP: rs80358233
rs80358233
TOR1A
T 0.700 CausalMutation CLINVAR The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 9288096

1997
dbSNP: rs1057518942
rs1057518942
NPC1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167290
rs1114167290
MYO5A
C 0.700 CausalMutation CLINVAR

dbSNP: rs1131692231
rs1131692231
CYFIP2
T 0.700 CausalMutation CLINVAR

dbSNP: rs113371321
rs113371321
NPC1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1135401746
rs1135401746
GNB1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs113994063
rs113994063
EIF2B5
T 0.700 CausalMutation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
A 0.700 CausalMutation CLINVAR

dbSNP: rs121917762
rs121917762
TH
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1247665387
rs1247665387
FA2H
A 0.700 GeneticVariation CLINVAR