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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 chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00386 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00386 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00386 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287
JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100
JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017
JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00386 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357
JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00386 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00386 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00386 NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00386 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6100
    disease pathway 1955
      nutritional and metabolic disease pathway 708
        metabolic disease pathway 666
          lipid metabolism disease pathway 95
            inborn error of lipid metabolism pathway 95
              desmosterolosis pathway 22
paths to the root