DBH, dopamine beta-hydroxylase, 1621

N. diseases: 202; N. variants: 26
Disease: Dystonia Musculorum Deformans ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.040 Biomarker disease BEFREE The chromosome 9 region overlaps the genes for dopamine beta-hydroxylase and torsion dystonia. 11571351 2001
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.040 GeneticVariation disease BEFREE Here we evaluate the inheritance of restriction fragment length polymorphisms near the DBH gene in families with four subtypes of hereditary dystonia: Jewish and non-Jewish, early onset, generalized idiopathic torsion dystonia (ITD); dopa-responsive dystonia; and myoclonic dystonia. 1677923 1991
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.040 GeneticVariation disease BEFREE Normal plasma levels of norepinephrine and dopamine-beta-hydroxylase are consistent with autosomal recessive hereditary torsion dystonia. 6486739 1984
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.040 AlteredExpression disease BEFREE Serum dopamine beta hydroxylase activity and metoclopramide provocative test in torsion dystonia. 7359123 1980