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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:abnormal porphyrin level
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Accession:MP:0011989 term browser browse the term
Definition:aberrant concentration of porphyrins or protoporphyrins


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increased erythrocyte protoporphyrin level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1, erythroid IAGP MGI PMID:658175 NCBI chr 8:23,464,852...23,640,517
Ensembl chr 8:23,464,860...23,640,513 		JBrowse link
G Exoc6 exocyst complex component 6 IAGP MGI PMID:3960859 PMID:9292544 NCBI chr19:37,525,181...37,672,499
Ensembl chr19:37,509,327...37,672,507 		JBrowse link
G Fech ferrochelatase IAGP MGI PMID:1939658 PMID:18780836 NCBI chr18:64,589,613...64,622,169
Ensembl chr18:64,585,985...64,623,322 		JBrowse link
G Heph hephaestin IAGP MGI PMID:658175 NCBI chr  X:95,499,042...95,618,091
Ensembl chr  X:95,498,965...95,618,091 		JBrowse link
G Hmbs hydroxymethylbilane synthase IAGP MGI PMID:30615115 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase IAGP MGI PMID:658175 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Kitl kit ligand IAGP MGI PMID:658175 NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278 		JBrowse link
G Slc11a2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 IAGP MGI PMID:658175 NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953 		JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 IAGP MGI PMID:658175 PMID:1832936 PMID:7059672 NCBI chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016 		JBrowse link
G Sptb spectrin beta, erythrocytic IAGP MGI PMID:658175 NCBI chr12:76,627,262...76,757,321
Ensembl chr12:76,627,262...76,757,321 		JBrowse link
increased porphyrin level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) IAGP MGI PMID:23954234 NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661 		JBrowse link
G Fech ferrochelatase IAGP MGI PMID:1939658 PMID:28093505 NCBI chr18:64,589,613...64,622,169
Ensembl chr18:64,585,985...64,623,322 		JBrowse link
G Hfe homeostatic iron regulator IAGP MGI PMID:11134514 NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837 		JBrowse link
G Ireb2 iron responsive element binding protein 2 IAGP MGI PMID:24896637 NCBI chr 9:54,769,942...54,819,818
Ensembl chr 9:54,771,073...54,819,814 		JBrowse link
G Urod uroporphyrinogen decarboxylase IAGP MGI PMID:11134514 NCBI chr 4:116,847,162...116,851,634
Ensembl chr 4:116,847,162...116,851,610 		JBrowse link
G Uros uroporphyrinogen III synthase IAGP MGI PMID:16532394 NCBI chr 7:133,287,871...133,312,176
Ensembl chr 7:133,287,972...133,311,801 		JBrowse link
porphyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) IAGP MGI PMID:12429862 NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661 		JBrowse link
G Cpox coproporphyrinogen oxidase IAGP MGI PMID:28600349 NCBI chr16:58,490,571...58,500,754
Ensembl chr16:58,490,655...58,537,999 		JBrowse link
G Hmbs hydroxymethylbilane synthase IAGP MGI PMID:8563760 PMID:30615115 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G Ireb2 iron responsive element binding protein 2 IAGP MGI PMID:24896637 NCBI chr 9:54,769,942...54,819,818
Ensembl chr 9:54,771,073...54,819,814 		JBrowse link
G Kcna1 potassium voltage-gated channel, shaker-related subfamily, member 1 IAGP MGI PMID:17250763 NCBI chr 6:126,613,426...126,622,764
Ensembl chr 6:126,617,360...126,623,347 		JBrowse link
G Uros uroporphyrinogen III synthase IAGP MGI PMID:16314073 NCBI chr 7:133,287,871...133,312,176
Ensembl chr 7:133,287,972...133,311,801 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16438
    homeostasis/metabolism phenotype 7531
      abnormal homeostasis 6701
        abnormal porphyrin level 17
          decreased porphyrin level 0
          increased porphyrin level + 17
paths to the root