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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:desmosterolosis pathway
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Accession:PW:0002106 term browser browse the term
Definition:A rare autosomal recessive disorder likely resulting from alteration in cholesterol metabolism. Desmosterol, a precursor of cholesterol, is present in elevated amounts.
Synonyms:exact_synonym: desmosterolosis disease pathway
 related_synonym: SMP:00386


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desmosterolosis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO SMPDB SMP:00386 NCBI chrNW_004936489:11,255,871...11,273,848 JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chrNW_004936522:6,423,561...6,447,363 JBrowse link
G Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936628:3,599,435...3,600,061 JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chrNW_004936580:4,799,354...4,808,406 JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936484:17,104,437...17,115,897 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chrNW_004936549:1,378,536...1,400,501 JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936480:18,862,288...18,882,614 JBrowse link
G Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chrNW_004936831:951,603...976,159 JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936484:13,054,155...13,061,935 JBrowse link
G LOC101955024 lanosterol 14-alpha demethylase ISO SMPDB SMP:00386 NCBI chrNW_004936621:2,209,255...2,232,404 JBrowse link
G LOC101964999 EBP cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chrNW_004936721:508,716...515,968 JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00386 NCBI chrNW_004936778:323,120...351,100 JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936555:664,171...678,082 JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chrNW_004936641:1,030,465...1,035,967 JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00386 NCBI chrNW_004936769:1,274,595...1,295,186 JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chrNW_004936714:246,574...273,930 JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chrNW_004936580:4,473,554...4,482,396 JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chrNW_004936542:6,046,425...6,062,825 JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chrNW_004936481:9,614,605...9,669,705 JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00386 NCBI chrNW_004936470:22,726,793...22,752,429 JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chrNW_004936599:4,253,725...4,258,198 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3945
    disease pathway 686
      nutritional and metabolic disease pathway 557
        metabolic disease pathway 522
          lipid metabolism disease pathway 93
            inborn error of lipid metabolism pathway 93
              desmosterolosis pathway 21
paths to the root