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: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.030 Biomarker disease 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: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.030 GeneticVariation disease BEFREE Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia. 9921872 1999
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.030 Biomarker disease BEFREE Furthermore, indirect evidence indicated that the GTP cyclohydrolase I (GTPCH) feedback regulatory protein (GFRP) complex may be a sensor for brain L-Phe elevation to ameliorate the toxic effects of HPA. 29520738 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 AlteredExpression disease BEFREE We aimed to investigate the importance of endothelial BH4 availability in atherosclerosis using a transgenic mouse model with endothelial-targeted overexpression of the rate-limiting enzyme in BH4 synthesis, GTP-cyclohydrolase I (GTPCH). 14707037 2004
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 Biomarker disease BEFREE Induction of vascular GTP-cyclohydrolase I and endogenous tetrahydrobiopterin synthesis protect against inflammation-induced endothelial dysfunction in human atherosclerosis. 21969008 2011
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.020 AlteredExpression disease BEFREE We aimed to investigate the importance of endothelial BH4 availability in atherosclerosis using a transgenic mouse model with endothelial-targeted overexpression of the rate-limiting enzyme in BH4 synthesis, GTP-cyclohydrolase I (GTPCH). 14707037 2004
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.020 Biomarker disease BEFREE Induction of vascular GTP-cyclohydrolase I and endogenous tetrahydrobiopterin synthesis protect against inflammation-induced endothelial dysfunction in human atherosclerosis. 21969008 2011
CUI: C0003864
Disease: Arthritis
Arthritis 		0.010 Biomarker disease BEFREE We investigated the induction of iNOS together with argininosuccinate synthase (AS) and GTP cyclohydrolase I (GTPCH), 2 of the rate-limiting enzymes for high output NO generation, in the Tg197 h-TNF-alpha transgenic model of arthritis. 12672181 2003
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		0.010 GeneticVariation disease BEFREE An association study between BPD and a novel single nucleotide polymorphism (SNP) in GCHI (G to A at position -959 bp, upstream of the ATG codon), is also presented here. 15909293 2005
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 GeneticVariation disease BEFREE An association study between BPD and a novel single nucleotide polymorphism (SNP) in GCHI (G to A at position -959 bp, upstream of the ATG codon), is also presented here. 15909293 2005
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 AlteredExpression disease BEFREE In vivo activation of AMP-activated protein kinase attenuates diabetes-enhanced degradation of GTP cyclohydrolase I. 19528375 2009
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE GTP cyclohydrolase I gene polymorphisms are associated with endothelial dysfunction and oxidative stress in patients with type 2 diabetes mellitus. 25369080 2014
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 Biomarker disease BEFREE Reactive species balance via GTP cyclohydrolase I regulates glioblastoma growth and tumor initiating cell maintenance. 29409010 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 AlteredExpression disease BEFREE Characterization of GTP cyclohydrolase I gene expression in the human neuroblastoma SKN-BE(2)M17: enhanced transcription in response to cAMP is conferred by the proximal promoter. 11701761 2001
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: C0268465
Disease: Phenylketonuria II
Phenylketonuria II 		0.010 GeneticVariation disease BEFREE There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase deficiency, three with GTP cyclohydrolase I - autosomal recessive form deficiency, and three with dihydropteridine reductase deficiency (30% each). 28801146 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE Reactive species balance via GTP cyclohydrolase I regulates glioblastoma growth and tumor initiating cell maintenance. 29409010 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE Reactive species balance via GTP cyclohydrolase I regulates glioblastoma growth and tumor initiating cell maintenance. 29409010 2018
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: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 AlteredExpression disease BEFREE Characterization of GTP cyclohydrolase I gene expression in the human neuroblastoma SKN-BE(2)M17: enhanced transcription in response to cAMP is conferred by the proximal promoter. 11701761 2001
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: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 AlteredExpression disease BEFREE The present study was designed to determine the GCHI mRNA expression as well as to confirm iNOS mRNA expression in endomyocardial biopsy specimens from patients with DCM. 15698596 2005
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 Biomarker disease BEFREE Reactive species balance via GTP cyclohydrolase I regulates glioblastoma growth and tumor initiating cell maintenance. 29409010 2018
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		0.010 Biomarker disease BEFREE Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2. 11161814 2001
CUI: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia 		0.010 GeneticVariation disease BEFREE Advances in the molecular genetics of dystonia have led to the recent identification of a 3-bp deletion in the DYT1 gene, causing early-onset generalized torsion dystonia (TD), and to the detection of mutations in the GTP cyclohydrolase I and the tyrosine hydroxylase genes causing dopa-responsive dystonia (DYT5). 12194383 1999