DBH, dopamine beta-hydroxylase, 1621

N. diseases: 202; N. variants: 26
Disease: ORTHOSTATIC HYPOTENSION 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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