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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-Coenzyme A acetyltransferase 2 ISO SMPDB SMP:00386 NCBI chr17:12,943,042...12,960,725
Ensembl chr17:12,942,890...12,960,747
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00386 NCBI chr 5:4,080,674...4,104,697
Ensembl chr 5:4,081,145...4,104,746
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chr 4:106,561,038...106,589,113
Ensembl chr 4:106,561,038...106,589,113
JBrowse link
G Ebp phenylalkylamine Ca2+ antagonist (emopamil) binding protein ISO SMPDB SMP:00386 NCBI chr  X:8,185,329...8,193,512
Ensembl chr  X:8,185,329...8,193,512
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00386 NCBI chr14:63,145,150...63,181,687
Ensembl chr14:63,145,150...63,179,578
JBrowse link
G Fdps farnesyl diphosphate synthetase ISO SMPDB SMP:00386 NCBI chr 3:89,093,588...89,101,967
Ensembl chr 3:89,093,588...89,101,959
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chr13:14,049,790...14,063,566
Ensembl chr13:14,050,659...14,063,488
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase ISO SMPDB SMP:00386 NCBI chr13:96,648,962...96,670,936
Ensembl chr13:96,648,967...96,670,936
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 ISO SMPDB SMP:00386 NCBI chr13:119,690,351...119,708,260
Ensembl chr13:119,690,379...119,708,260
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chr 1:169,949,535...169,969,242
Ensembl chr 1:169,949,535...169,969,241
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase ISO SMPDB SMP:00386 NCBI chr13:8,885,606...8,892,396
Ensembl chr13:8,885,501...8,892,451
JBrowse link
G Lipa lysosomal acid lipase A ISO SMPDB SMP:00386 NCBI chr19:34,492,316...34,527,474
Ensembl chr19:34,492,318...34,527,474
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00386 NCBI chr10:76,531,565...76,557,139
Ensembl chr10:76,531,588...76,557,138
JBrowse link
G Msmo1 methylsterol monoxygenase 1 ISO SMPDB SMP:00386 NCBI chr 8:64,718,123...64,733,578
Ensembl chr 8:64,718,139...64,733,792
JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO SMPDB SMP:00386 NCBI chr 8:122,433,596...122,443,422
Ensembl chr 8:122,433,601...122,443,422
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00386 NCBI chr 5:114,444,264...114,460,591
Ensembl chr 5:114,444,269...114,460,591
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chr  X:72,918,521...72,958,528
Ensembl chr  X:72,918,557...72,958,514
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chr 3:89,454,541...89,469,014
Ensembl chr 3:89,454,541...89,469,013
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chr 9:42,251,592...42,264,300
Ensembl chr 9:42,251,595...42,264,256
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chr 1:156,428,108...156,474,328
Ensembl chr 1:156,424,525...156,474,331
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00386 NCBI chr15:59,315,092...59,331,193
Ensembl chr15:59,315,077...59,331,192
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chr19:6,062,821...6,067,850
Ensembl chr19:6,062,821...6,068,373
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6066
    disease pathway 2094
      nutritional and metabolic disease pathway 700
        metabolic disease pathway 660
          lipid metabolism disease pathway 95
            inborn error of lipid metabolism pathway 95
              desmosterolosis pathway 22
paths to the root