NIF3L1, NGG1 interacting factor 3 like 1, 60491

N. diseases: 37; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.100 Biomarker disease BEFREE GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. 7501255 1995
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.100 AlteredExpression disease BEFREE Quantitative RT-PCR showed that the expression of normal GTP cyclohydrolase I mRNA decreased in their lymphocytes, while the HPD patient had more expression of mutant GTP cyclohydrolase I mRNA than his asymptomatic mother. 7544125 1995
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.100 AlteredExpression disease BEFREE The result indicates that the decreased dopamine level in the basal ganglia in JP is not due to decreased activity of GTP cyclohydrolase I, the enzyme for the biosynthesis of the tetrahydrobiopterin cofactor of tyrosine hydroxylase (TH), and the enzyme activity in mononuclear blood cells could be a reliable method for differential diagnosis between JP and HPD/DRD. 7644124 1995
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		0.010 AlteredExpression disease BEFREE The result indicates that the decreased dopamine level in the basal ganglia in JP is not due to decreased activity of GTP cyclohydrolase I, the enzyme for the biosynthesis of the tetrahydrobiopterin cofactor of tyrosine hydroxylase (TH), and the enzyme activity in mononuclear blood cells could be a reliable method for differential diagnosis between JP and HPD/DRD. 7644124 1995
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.100 Biomarker disease BEFREE Furthermore, very recently, we found that the GTP cyclohydrolase I gene is causative for hereditary progressive dystonia with marked diurnal fluctuation, also known as DOPA-responsive dystonia (Ichinose, H., Ohye, T., Takahashi, E., Seki, N., Hori, T., Segawa, M., Nomura, Y., Endo, K., Tanaka, H., Tsuji, S., Fujita, K., and Nagatsu, T. (1994) Nature Genetics 8, 236-242). 7730309 1995
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
Hyperphenylalaninemia, BH4-Deficient, B 		0.030 GeneticVariation disease BEFREE Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. 7730309 1995
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.100 Biomarker disease BEFREE The identification of four independent mutations of the gene for GTP cyclohydrolase I in patients with HPD, as well as a marked decrease in the enzyme's activity in mononuclear blood cells, confirms that the GTP cyclohydrolase I gene is a causative gene for HPD/DRD. 7874165 1994
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.010 AlteredExpression disease BEFREE Patients with this depigmentation disorder have a 3- to 5-fold increase in GTP-cyclohydrolase I activity leading to an excessive de novo synthesis of (6R)5,6,7,8 tetrahydrobiopterin (6-BH4). 8204666 1994
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.100 Biomarker disease BEFREE Recently the GTP cyclohydrolase I (GTPCH) gene was isolated as the first causative gene for dopa-responsive dystonia (DRD). 8852666 1996
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.100 GeneticVariation disease BEFREE We conclude that so far there is no evidence that mutations of the GTPCH gene are responsible for the development of parkinsonism in patients without a positive family history of DRD. 8880688 1996
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.010 GeneticVariation group BEFREE We conclude that so far there is no evidence that mutations of the GTPCH gene are responsible for the development of parkinsonism in patients without a positive family history of DRD. 8880688 1996
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.100 GeneticVariation disease BEFREE We found that mutations of GTP cyclohydrolase I, the rate-limiting enzyme in the biosynthesis of tetrahydrobiopterin, which is the cofactor of dopamine-synthesizing tyrosine hydroxylase, cause dominantly inherited hereditary progressive dystonia with marked diurnal fluctuation (HPD, Segawa's disease) probably owing to the decrease of dopamine in the basal ganglia. 9205791 1997
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.100 GeneticVariation disease BEFREE We found that dominantly inherited, hereditary progressive dystonia (HPD), first described by Segawa and also called dopa responsive dystonia (DRD), is caused by the mutations of GTP cyclohydrolase I gene, the partial decrease in the enzyme activity, and probably in striatal dopamine level, to less than 20% of the normal values. 9266429 1997
CUI: C0013421
Disease: Dystonia
Dystonia 		0.050 GeneticVariation phenotype BEFREE GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. 9328244 1997
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.050 GeneticVariation group BEFREE GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. 9328244 1997
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.040 Biomarker disease BEFREE Characterization of intrastriatal recombinant adeno-associated virus-mediated gene transfer of human tyrosine hydroxylase and human GTP-cyclohydrolase I in a rat model of Parkinson's disease. 9592104 1998
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.100 Biomarker disease BEFREE A new missense mutation in exon I of the gene of GTP-cyclohydrolase I was found in the three family members with dopa responsive dystonia. 9647318 1998
CUI: C0013421
Disease: Dystonia
Dystonia 		0.050 GeneticVariation phenotype BEFREE Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588 1998
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.050 GeneticVariation group BEFREE Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588 1998
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.010 GeneticVariation disease BEFREE Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588 1998
CUI: C0013421
Disease: Dystonia
Dystonia 		0.050 GeneticVariation phenotype BEFREE Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia. 9749603 1998
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.050 GeneticVariation group BEFREE Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia. 9749603 1998
CUI: C0013421
Disease: Dystonia
Dystonia 		0.050 GeneticVariation phenotype BEFREE Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia. 9921872 1999
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.050 GeneticVariation group BEFREE Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia. 9921872 1999
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.030 GeneticVariation disease BEFREE Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia. 9921872 1999