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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:increased phenylalanine level
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Accession:MP:0030697 term browser browse the term
Definition:increase in the amount of phenylalanine (2-amino-3-phenylpropanoic acid), an essential alpha-amino acid that is the precursor of tyrosine, the monoamine neurotransmitters dopamine, norepinephrine and epinephrine, and the skin pigment melanin


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increased phenylalanine level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh7a1 aldehyde dehydrogenase family 7, member A1 IAGP MGI PMID:32969477 NCBI chr18:56,657,794...56,706,112
Ensembl chr18:56,642,759...56,706,023 		JBrowse link
G Gch1 GTP cyclohydrolase 1 IAGP MGI PMID:30742839 NCBI chr14:47,391,352...47,426,870
Ensembl chr14:47,391,352...47,426,870 		JBrowse link
G Pah phenylalanine hydroxylase IAGP MGI PMID:21640623 PMID:33790381 NCBI chr10:87,357,657...87,419,999
Ensembl chr10:87,357,657...87,419,998 		JBrowse link
G Phgdh 3-phosphoglycerate dehydrogenase IAGP MGI PMID:20966073 NCBI chr 3:98,220,487...98,247,285
Ensembl chr 3:98,220,486...98,247,306 		JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase IAGP MGI PMID:11517215 NCBI chr 9:50,432,917...50,440,017
Ensembl chr 9:50,432,917...50,440,024 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 IAGP MGI PMID:27912058 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
increased circulating phenylalanine level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp8a2 ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 IAGP MGI PMID:4388883 NCBI chr14:59,884,980...60,324,363
Ensembl chr14:59,875,989...60,434,628 		JBrowse link
G Hnf1a HNF1 homeobox A IAGP MGI PMID:8598044 NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase core subunit S4 IAGP MGI PMID:22535952 NCBI chr13:114,424,331...114,524,630
Ensembl chr13:114,424,331...114,524,794 		JBrowse link
G Pah phenylalanine hydroxylase IAGP MGI PMID:8375656 PMID:33790381 NCBI chr10:87,357,657...87,419,999
Ensembl chr10:87,357,657...87,419,998 		JBrowse link
G Pcbd1 pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1 IAGP MGI PMID:12011081 NCBI chr10:60,925,110...60,930,108
Ensembl chr10:60,925,110...60,930,103 		JBrowse link
G Spr sepiapterin reductase IAGP MGI PMID:16532389 NCBI chr 6:85,110,662...85,114,746
Ensembl chr 6:85,107,158...85,114,748 		JBrowse link
phenylalaninuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a19 solute carrier family 6 (neurotransmitter transporter), member 19 IAGP MGI PMID:21636576 NCBI chr13:73,827,864...73,848,899
Ensembl chr13:73,827,864...73,852,984 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17065
    homeostasis/metabolism phenotype 7909
      abnormal homeostasis 7051
        abnormal amino acid level 626
          abnormal phenylalanine level 15
            increased phenylalanine level 12
              increased circulating phenylalanine level 6
              phenylalaninuria 1
paths to the root