rs104894445, GCH1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperphenylalaninemia, BH4-Deficient, B
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. 7501255 1995
Hyperphenylalaninemia, BH4-Deficient, B
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
0.800 GeneticVariation UNIPROT Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588 1998
Dopa-Responsive Dystonia
CUI: C1851920
Disease: Dopa-Responsive Dystonia
0.020 GeneticVariation BEFREE We describe a 54-year-old man with dominant adult-onset dopa-responsive dystonia (DRD) with parkinsonism caused by an Arg184His mutation in guanosine 5'-triphosphate cyclohydrolase I (GCH-I). 15133828 2004
Hyperphenylalaninemia, BH4-Deficient, B
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
0.800 CausalMutation CLINVAR Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients. 27246466 2017
Dopa-Responsive Dystonia
CUI: C1851920
Disease: Dopa-Responsive Dystonia
0.020 GeneticVariation BEFREE All other family members harboring one of these GCH1 variants were asymptomatic except for one (heterozygous for p.R184H) who was diagnosed with DRD. 30911941 2019