Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 (http://rgd.mcw.edu/contact/index.shtml).
Term:hawkinsinuria pathway
go back to main search page
Accession:PW:0002380 term browser browse the term
Definition:An autosomal dominant condition resulting from alterations in amino acid metabolism due to defects in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene.
Synonyms:exact_synonym: hawkinsinuria disease pathway
 related_synonym: SMP:00190


show annotations for term's descendants           Sort by:
hawkinsinuria pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide EXP SMPDB SMP:00190 NCBI chr 4:99,276,369...99,290,985
Ensembl chr 4:99,276,369...99,291,003 		JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 EXP SMPDB SMP:00190 NCBI chr17:19,737,984...19,748,298
Ensembl chr17:19,737,984...19,748,943 		JBrowse link
G AOC1 amine oxidase copper containing 1 EXP SMPDB SMP:00190 NCBI chr 7:150,852,120...150,861,504
Ensembl chr 7:150,824,627...150,861,504 		JBrowse link
G COMT catechol-O-methyltransferase EXP SMPDB SMP:00190 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G DBH dopamine beta-hydroxylase EXP SMPDB SMP:00190 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329 		JBrowse link
G DCT dopachrome tautomerase EXP SMPDB SMP:00190 NCBI chr13:94,436,811...94,549,406
Ensembl chr13:94,436,811...94,479,682 		JBrowse link
G DDC dopa decarboxylase EXP SMPDB SMP:00190 NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405 		JBrowse link
G FAH fumarylacetoacetate hydrolase EXP SMPDB SMP:00190 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		JBrowse link
G GOT1 glutamic-oxaloacetic transaminase 1 EXP SMPDB SMP:00190 NCBI chr10:99,396,870...99,430,624
Ensembl chr10:99,396,870...99,430,624 		JBrowse link
G GSTZ1 glutathione S-transferase zeta 1 EXP SMPDB SMP:00190 NCBI chr14:77,321,036...77,331,597
Ensembl chr14:77,320,996...77,331,597 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase EXP SMPDB SMP:00190 NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,767,089...42,792,593 		JBrowse link
G HGD homogentisate 1,2-dioxygenase EXP SMPDB SMP:00190 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G HPD 4-hydroxyphenylpyruvate dioxygenase EXP SMPDB SMP:00190 NCBI chr12:121,839,527...121,888,611
Ensembl chr12:121,839,527...121,863,596 		JBrowse link
G MAOA monoamine oxidase A EXP SMPDB SMP:00190 NCBI chr  X:43,655,006...43,746,817
Ensembl chr  X:43,654,907...43,746,817 		JBrowse link
G MIF macrophage migration inhibitory factor EXP SMPDB SMP:00190 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G PNMT phenylethanolamine N-methyltransferase EXP SMPDB SMP:00190 NCBI chr17:39,668,019...39,670,475
Ensembl chr17:39,667,981...39,670,475 		JBrowse link
G TAT tyrosine aminotransferase EXP SMPDB SMP:00190 NCBI chr16:71,565,660...71,577,092
Ensembl chr16:71,565,660...71,577,092 		JBrowse link
G TYR tyrosinase EXP SMPDB SMP:00190 NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 5958
    disease pathway 2076
      congenital disease pathway 536
        inborn genetic disease pathway 536
          inborn error of metabolism pathway 536
            inborn error of amino acid metabolism pathway 232
              hawkinsinuria pathway 18
paths to the root