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: 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: 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: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.050 GeneticVariation group BEFREE We found a recessive GTPCH mutation (R249S, 747C-->G in a dystonia patient. 10987649 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: 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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.010 Biomarker group BEFREE The expression of inducible nitric oxide synthase (iNOS) was earlier demonstrated in the ventricles of patients with dilated cardiomyopathy (DCM) although that of GCHI was not clarified. 15698596 2005
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 AlteredExpression group BEFREE In vivo activation of AMP-activated protein kinase attenuates diabetes-enhanced degradation of GTP cyclohydrolase I. 19528375 2009
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.010 Biomarker group BEFREE GTP cyclohydrolase I (GTPCH) deficiency could impair the synthesis of tetrahydrobiopterin and causes metabolic diseases involving phenylalanine catabolism, neurotransmitter synthesis, nitric oxide production and so on. 30742839 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.010 GeneticVariation group BEFREE We recruited 16 patients from 11 Russian families with dopa-responsive movement disorders according to the following criteria: 1) family history compatible with autosomal recessive inheritance; 2) onset of symptoms at </=30 years of age; and 3) the lack of mutations in the GTP cyclohydrolase I gene (in sporadic cases). 12889082 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Reactive species balance via GTP cyclohydrolase I regulates glioblastoma growth and tumor initiating cell maintenance. 29409010 2018
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 Biomarker group BEFREE After retroviral gene transfer of PAH and GTP-CH both normal and PKU patient fibroblasts were able to metabolize phenylalanine, however, in lower amounts compared to genetically modified keratinocytes. 12208136 2002
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: C0013421
Disease: Dystonia
Dystonia 		0.050 GeneticVariation phenotype BEFREE Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia. 9921872 1999
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: C0013421
Disease: Dystonia
Dystonia 		0.050 GeneticVariation phenotype BEFREE GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. 9328244 1997
CUI: C0013421
Disease: Dystonia
Dystonia 		0.050 GeneticVariation phenotype BEFREE We found a recessive GTPCH mutation (R249S, 747C-->G in a dystonia patient. 10987649 1999
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: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.030 GeneticVariation phenotype BEFREE GTP cyclohydrolase I gene polymorphisms are associated with endothelial dysfunction and oxidative stress in patients with type 2 diabetes mellitus. 25369080 2014
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.030 AlteredExpression phenotype BEFREE Increased endothelial tetrahydrobiopterin synthesis by targeted transgenic GTP-cyclohydrolase I overexpression reduces endothelial dysfunction and atherosclerosis in ApoE-knockout mice. 14707037 2004
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.030 GeneticVariation phenotype BEFREE In Study 2, a functional haplotype (X haplotype) in the GCH1 gene, encoding GTP-cyclohydrolase I, the rate-limiting enzyme in biopterin biosynthesis, was associated with endothelial dysfunction in the presence of high-sensitivity C-reactive protein in 440 coronary artery disease patients. 21969008 2011
CUI: C0686377
Disease: CNS metastases
CNS metastases 		0.010 Biomarker phenotype BEFREE We describe a unique presentation of autosomal recessive (AR) GTP cyclohydrolase I (GTPCH) deficiency, with severe CNS involvement but without hyperphenylalaninemia. 18276179 2008
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 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: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.100 GeneticVariation disease BEFREE Mutations in GTP cyclohydrolase I (GCHI) are found in 50 to 60% of cases with dopa-responsive dystonia (DRD). 15753436 2005
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