DBH, dopamine beta-hydroxylase, 1621

N. diseases: 202; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342687
Disease: dopamine beta hydroxylase deficiency
dopamine beta hydroxylase deficiency 		0.710 Biomarker disease BEFREE Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase. 21209083 2011
CUI: C0342687
Disease: dopamine beta hydroxylase deficiency
dopamine beta hydroxylase deficiency 		0.710 Biomarker disease MGD Leptin regulation of bone resorption by the sympathetic nervous system and CART. 15724149 2005
CUI: C0342687
Disease: dopamine beta hydroxylase deficiency
dopamine beta hydroxylase deficiency 		0.710 Biomarker disease MGD Noradrenaline is essential for mouse fetal development. 7715704 1995
CUI: C0342687
Disease: dopamine beta hydroxylase deficiency
dopamine beta hydroxylase deficiency 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C0342687
Disease: dopamine beta hydroxylase deficiency
dopamine beta hydroxylase deficiency 		0.710 Biomarker disease CTD_human
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.600 Biomarker disease GENOMICS_ENGLAND Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency. 27778639 2017
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.600 CausalMutation disease CLINVAR Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency. 27778639 2017
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.600 Biomarker disease GENOMICS_ENGLAND The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders. 27830117 2016
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.600 CausalMutation disease CLINVAR Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase. 21209083 2011
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.600 CausalMutation disease CLINVAR Neurocognitive function in dopamine-β-hydroxylase deficiency. 21471955 2011
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.600 CausalMutation disease CLINVAR DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndrome. 15060114 2004
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.600 CausalMutation disease CLINVAR A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T --> C in African- and European-Americans. 14598346 2003
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.600 CausalMutation disease CLINVAR Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. 11857564 2002
CUI: C4746777
Disease: ORTHOSTATIC HYPOTENSION 1
ORTHOSTATIC HYPOTENSION 1 		0.600 GeneticVariation disease UNIPROT Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. 11857564 2002
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.530 Biomarker disease PSYGENET The aim of this association study in a large multicenter sample of alcohol-dependent individuals and controls is to investigate the role of DBH SNPs and haplotypes in AD risk and associated phenotypes (AD with MD or SA). 23906995 2013
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.530 GeneticVariation disease BEFREE The aim of this association study in a large multicenter sample of alcohol-dependent individuals and controls is to investigate the role of DBH SNPs and haplotypes in AD risk and associated phenotypes (AD with MD or SA). 23906995 2013
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.530 Biomarker disease PSYGENET Molecular genetic studies point to potential risk loci of psychotic depression shared with schizoaffective disorder (1q42, 22q11, 19p13), depression, bipolar disorder, and schizophrenia (6p, 8p22, 10p13-12, 10p14, 13q13-14, 13q32, 18p, 22q11-13) and several vulnerability genes possibly contributing to an increased risk of psychotic symptoms in depression (eg, BDNF, DBH, DTNBP1, DRD2, DRD4, GSK-3beta, MAO-A). 23512949 2013
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.530 Biomarker disease PSYGENET Tyrosine-hydroxylase (TH) and dopamine-beta-hydroxylase (DBH) mRNA levels were decreased both in right and left atria, while phenylethanolamine N-methyltransferase (PNMT) mRNAs were increased in left atria and both ventricles of depression model rats. 23305027 2012
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.530 Biomarker disease PSYGENET Genotype-controlled analysis of serum dopamine β-hydroxylase activity in civilian post-traumatic stress disorder. 20621148 2010
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.530 Biomarker disease RGD Degeneration of the locus ceruleus noradrenergic neurons in the stress-induced depression of rats. 19120095 2008
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.530 Biomarker disease PSYGENET The strength of the association of DBH genotype with depression essentially remained unchanged after correction for other variables in a multivariate model. 17698206 2008
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.530 GeneticVariation disease BEFREE The strength of the association of DBH genotype with depression essentially remained unchanged after correction for other variables in a multivariate model. 17698206 2008
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.530 Biomarker disease BEFREE In addition, since the activity of plasma and cerebrospinal fluid (CSF) dopamine beta-hydroxylase (DBH) is genetically determined, the co-occurrence of delusional depression and Parkinsonism in this patient may be related to a common underlying genetic defect that expresses itself biochemically by reduced cerebral NE metabolism. 8083026 1993
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.400 Biomarker disease BEFREE DBH is also involved in the pathophysiology of alcoholism. 24201835 2014