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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 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO SMPDB SMP:00386 NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658
JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO SMPDB SMP:00386 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO SMPDB SMP:00386 NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582
JBrowse link
G FDPS farnesyl diphosphate synthase ISO SMPDB SMP:00386 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00386 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00386 NCBI chr 3:30,970,037...30,988,987
Ensembl chr 3:30,970,037...30,990,294
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00386 NCBI chr 4:66,633,706...66,654,005
Ensembl chr 4:66,633,572...66,652,196
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 ISO SMPDB SMP:00386 NCBI chr38:19,975,935...19,999,077
Ensembl chr38:19,977,086...19,999,010
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00386 NCBI chr 2:33,927,759...33,930,651 JBrowse link
G LIPA lipase A, lysosomal acid type ISO SMPDB SMP:00386 NCBI chr26:38,892,771...38,918,441
Ensembl chr26:38,893,337...38,918,436
JBrowse link
G LSS lanosterol synthase ISO SMPDB SMP:00386 NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042
JBrowse link
G MSMO1 methylsterol monooxygenase 1 ISO SMPDB SMP:00386 NCBI chr15:61,293,769...61,307,285
Ensembl chr  X:8,144,335...8,145,216
Ensembl chr15:8,144,335...8,145,216
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO SMPDB SMP:00386 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073
JBrowse link
G MVK mevalonate kinase ISO SMPDB SMP:00386 NCBI chr26:17,497,516...17,519,015
Ensembl chr26:17,497,513...17,519,385
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00386 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143
JBrowse link
G PMVK phosphomevalonate kinase ISO SMPDB SMP:00386 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625
JBrowse link
G SC5D sterol-C5-desaturase ISO SMPDB SMP:00386 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO SMPDB SMP:00386 NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055
JBrowse link
G SQLE squalene epoxidase ISO SMPDB SMP:00386 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00386 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4028
    disease pathway 712
      nutritional and metabolic disease pathway 572
        metabolic disease pathway 532
          lipid metabolism disease pathway 93
            inborn error of lipid metabolism pathway 93
              desmosterolosis pathway 21
paths to the root