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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 (http://rgd.mcw.edu/contact/index.shtml).

Term:histidinemia pathway
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Accession:PW:0001978 term browser browse the term
Definition:An autosomal recessive condition resulting from alterations in the histidine metabolic pathway and characterized by increased levels of histidine in blood, cerebrospinal fluid and urine.
Synonyms:exact_synonym: histidinemia disease pathway;   histidinuria pathway
 related_synonym: SMP:00191



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histidinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00191 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 ISO SMPDB SMP:00191 NCBI chr 5:40,466,237...40,474,272
Ensembl chr 5:40,466,237...40,474,457
JBrowse link
G AMDHD1 amidohydrolase domain containing 1 ISO SMPDB SMP:00191 NCBI chr15:35,741,190...35,761,848
Ensembl chr15:35,692,161...35,760,978
JBrowse link
G AOC1 amine oxidase copper containing 1 ISO SMPDB SMP:00191 NCBI chr16:14,955,528...14,963,283
Ensembl chr16:14,958,658...15,036,651
JBrowse link
G CARNMT1 carnosine N-methyltransferase 1 ISO SMPDB SMP:00191 NCBI chr 1:83,188,622...83,229,942
Ensembl chr 1:83,188,747...83,227,488
JBrowse link
G CARNS1 carnosine synthase 1 ISO SMPDB SMP:00191 NCBI chr18:50,041,545...50,050,438
Ensembl chr18:50,042,465...50,050,949
JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO SMPDB SMP:00191 NCBI chr 1:4,875,790...4,912,148
Ensembl chr 1:4,876,794...4,911,976
JBrowse link
G CNDP2 carnosine dipeptidase 2 ISO SMPDB SMP:00191 NCBI chr 1:4,914,739...4,931,700
Ensembl chr 1:4,914,737...4,929,449
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO SMPDB SMP:00191 NCBI chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715
JBrowse link
G HAL histidine ammonia-lyase ISO SMPDB SMP:00191 NCBI chr15:35,767,314...35,791,086
Ensembl chr15:35,759,672...35,791,003
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO SMPDB SMP:00191 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00191 NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760
JBrowse link
G HDC histidine decarboxylase ISO SMPDB SMP:00191 NCBI chr30:16,201,222...16,223,452
Ensembl chr30:16,201,589...16,223,662
JBrowse link
G HNMT histamine N-methyltransferase ISO SMPDB SMP:00191 NCBI chr19:40,656,266...40,702,498
Ensembl chr19:40,655,161...40,702,218
JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00191 NCBI chr  X:37,678,933...37,744,757
Ensembl chr  X:37,677,493...37,744,757
JBrowse link
G PRMT3 protein arginine methyltransferase 3 ISO SMPDB SMP:00191 NCBI chr21:42,406,327...42,530,157
Ensembl chr21:42,406,314...42,528,116
JBrowse link
G UROC1 urocanate hydratase 1 ISO SMPDB SMP:00191 NCBI chr20:676,624...717,109
Ensembl chr20:678,073...717,141
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4052
    disease pathway 717
      congenital disease pathway 519
        inborn genetic disease pathway 519
          inborn error of metabolism pathway 519
            inborn error of amino acid metabolism pathway 229
              histidinemia pathway 17
paths to the root