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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 chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00530 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO SMPDB SMP:00530 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681
JBrowse link
G Dgka diacylglycerol kinase, alpha ISO SMPDB SMP:00530 NCBI chr 7:1,148,734...1,175,324
Ensembl chr 7:1,148,735...1,175,110
JBrowse link
G Gk glycerol kinase ISO SMPDB SMP:00530 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00530 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO SMPDB SMP:00530 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
JBrowse link
G Gpd1 glycerol-3-phosphate dehydrogenase 1 ISO SMPDB SMP:00530 NCBI chr 7:130,842,526...130,851,530
Ensembl chr 7:130,844,138...130,851,529
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO SMPDB SMP:00530 NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901
JBrowse link
G Lipc lipase C, hepatic type ISO SMPDB SMP:00530 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
G Lpl lipoprotein lipase ISO SMPDB SMP:00530 NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00530 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268
JBrowse link
G Plpp2 phospholipid phosphatase 2 ISO SMPDB SMP:00530 NCBI chr 7:10,175,918...10,184,032
Ensembl chr 7:10,175,948...10,184,071
JBrowse link

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Path 1
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  pathway 6092
    disease pathway 1954
      nutritional and metabolic disease pathway 709
        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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