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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:familial lipoprotein lipase deficiency pathway
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Accession:PW:0002557 term browser browse the term
Definition:An inherited condition resulting from alteration in lipid metabolism due to defects in lipase or apolipoprotein functions.
Synonyms:exact_synonym: Fredrickson type I hyperlipoproteinemia pathway;   Fredrickson type I lipemia pathway;   familial LPL deficiency pathway;   familial chylomiconemia syndrome pathway;   familial hyperlipoproteinemia type I pathway;   hypercholesterinemic xanthomatosis pathway;   hyperchylomicronemia pathway;   hyperlipoproteinemia type I disease pathway;   hyperlipoproteinemia type I pathway;   mixed hyperglyceridemia pathway
 related_synonym: SMP:00530


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familial lipoprotein lipase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO SMPDB SMP:00530 NCBI chr20:4,369,399...4,378,272
Ensembl chr20:4,369,178...4,378,269
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO SMPDB SMP:00530 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00530 NCBI chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876
JBrowse link
G Dgka diacylglycerol kinase, alpha ISO SMPDB SMP:00530 NCBI chr 7:3,143,826...3,170,764
Ensembl chr 7:3,143,827...3,170,146
JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00530 NCBI chr  X:54,227,291...54,303,897
Ensembl chr  X:54,227,397...54,303,864
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00530 NCBI chr 8:114,846,210...114,853,374
Ensembl chr 8:114,848,084...114,853,103
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00530 NCBI chr 1:275,843,823...275,906,880
Ensembl chr 1:275,846,819...275,906,686
JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00530 NCBI chr 7:141,368,928...141,377,931
Ensembl chr 7:141,370,491...141,377,928
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00530 NCBI chr 3:43,223,892...43,359,069
Ensembl chr 3:43,255,567...43,359,074
JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00530 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00530 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00530 NCBI chr 2:44,664,076...44,726,820
Ensembl chr 2:44,664,124...44,726,689
JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00530 NCBI chr 7:13,062,168...13,070,281
Ensembl chr 7:13,062,196...13,070,280
JBrowse link

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Path 1
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  pathway 6102
    disease pathway 1956
      nutritional and metabolic disease pathway 708
        metabolic disease pathway 666
          lipid metabolism disease pathway 95
            inborn error of lipid metabolism pathway 95
              familial lipoprotein lipase deficiency pathway 13
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