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PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (https://rgd.mcw.edu/rgdweb/contact/contactus.html).
Term:dopamine beta-hydroxylase deficiency pathway
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Accession:PW:0002208 term browser browse the term
Definition:A condition resulting from alterations in the pathways of norepinephrine and epinephrine biosynthesis due to defects in the dopamine beta-hydroxylase gene (DBH). DBH catalyzes the conversion of dopamine to norepinephrine, in turn the precursor to epinephrine.
Synonyms:exact_synonym: dopamine beta hydroxylase deficiency pathway
 related_synonym: SMP:00498


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dopamine beta-hydroxylase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00498 NCBI chr17:31,384,740...31,395,719
Ensembl chr17:36,531,720...36,542,504 		JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00498 NCBI chr 7:142,434,732...142,443,050
Ensembl chr 7:154,563,523...154,595,248 		JBrowse link
G COMT catechol-O-methyltransferase ISO SMPDB SMP:00498 NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387 		JBrowse link
G DBH dopamine beta-hydroxylase ISO SMPDB SMP:00498 NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697 		JBrowse link
G DCT dopachrome tautomerase ISO SMPDB SMP:00498 NCBI chr13:75,590,366...75,730,956
Ensembl chr13:94,773,794...94,816,083 		JBrowse link
G DDC dopa decarboxylase ISO SMPDB SMP:00498 NCBI chr 7:51,101,169...51,206,031
Ensembl chr 7:51,345,228...51,449,710 		JBrowse link
G FAH fumarylacetoacetate hydrolase ISO SMPDB SMP:00498 NCBI chr15:59,121,657...59,155,229
Ensembl chr15:78,048,571...78,115,098 		JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00498 NCBI chr10:96,012,345...96,046,266
Ensembl chr10:99,506,205...99,540,178 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 ISO SMPDB SMP:00498 NCBI chr14:57,874,184...57,901,397
Ensembl chr14:77,075,814...77,086,530 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase ISO SMPDB SMP:00498 NCBI chr2A:42,857,216...42,882,738
Ensembl chr2A:43,704,468...43,729,887 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO SMPDB SMP:00498 NCBI chr 3:117,735,772...117,790,096
Ensembl chr 3:124,646,431...124,700,733 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase ISO SMPDB SMP:00498 NCBI chr12:119,442,893...119,462,171
Ensembl chr12:122,813,141...122,831,701 		JBrowse link
G LOC100971436 alcohol dehydrogenase 1A ISO SMPDB SMP:00498 NCBI chr 4:91,697,663...91,712,314
Ensembl chr 4:102,359,419...102,374,101 		JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00498 NCBI chr  X:36,106,680...36,197,907
Ensembl chr  X:43,931,044...44,022,199 		JBrowse link
G MIF macrophage migration inhibitory factor ISO SMPDB SMP:00498 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009 		JBrowse link
G PNMT phenylethanolamine N-methyltransferase ISO SMPDB SMP:00498 NCBI chr17:17,618,399...17,620,691
Ensembl chr17:17,835,277...17,837,180 		JBrowse link
G TAT tyrosine aminotransferase ISO SMPDB SMP:00498 NCBI chr16:53,434,028...53,443,624
Ensembl chr16:71,404,399...71,413,886 		JBrowse link
G TYR tyrosinase ISO SMPDB SMP:00498 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138 		JBrowse link
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  pathway 4064
    disease pathway 714
      nervous system disease pathway 445
        autonomic nervous system disease pathway 18
          dopamine beta-hydroxylase deficiency pathway 18
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