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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 EXP SMPDB SMP:00386 NCBI chr 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 EXP SMPDB SMP:00386 NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,084,987...92,134,803
JBrowse link
G DHCR24 24-dehydrocholesterol reductase EXP SMPDB SMP:00386 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
JBrowse link
G EBP EBP cholestenol delta-isomerase EXP SMPDB SMP:00386 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 EXP SMPDB SMP:00386 NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,395
JBrowse link
G FDPS farnesyl diphosphate synthase EXP SMPDB SMP:00386 NCBI chr 1:155,308,866...155,320,665
Ensembl chr 1:155,308,748...155,320,666
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 EXP SMPDB SMP:00386 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532
JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase EXP SMPDB SMP:00386 NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 EXP SMPDB SMP:00386 NCBI chr 5:43,287,470...43,313,412
Ensembl chr 5:43,287,470...43,313,512
JBrowse link
G HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 EXP SMPDB SMP:00386 NCBI chr 1:162,790,702...162,812,823
Ensembl chr 1:162,790,702...162,812,823
JBrowse link
G IDI1 isopentenyl-diphosphate delta isomerase 1 EXP SMPDB SMP:00386 NCBI chr10:1,039,152...1,056,704
Ensembl chr10:1,039,152...1,049,119
JBrowse link
G LIPA lipase A, lysosomal acid type EXP SMPDB SMP:00386 NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G LSS lanosterol synthase EXP SMPDB SMP:00386 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
JBrowse link
G MSMO1 methylsterol monooxygenase 1 EXP SMPDB SMP:00386 NCBI chr 4:165,327,669...165,343,164
Ensembl chr 4:165,327,667...165,343,164
JBrowse link
G MVD mevalonate diphosphate decarboxylase EXP SMPDB SMP:00386 NCBI chr16:88,651,940...88,663,091
Ensembl chr16:88,651,935...88,663,161
JBrowse link
G MVK mevalonate kinase EXP SMPDB SMP:00386 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like EXP SMPDB SMP:00386 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G PMVK phosphomevalonate kinase EXP SMPDB SMP:00386 NCBI chr 1:154,924,740...154,942,658
Ensembl chr 1:154,924,740...154,936,719
JBrowse link
G SC5D sterol-C5-desaturase EXP SMPDB SMP:00386 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
JBrowse link
G SOAT1 sterol O-acyltransferase 1 EXP SMPDB SMP:00386 NCBI chr 1:179,293,797...179,358,680
Ensembl chr 1:179,293,714...179,358,680
JBrowse link
G SQLE squalene epoxidase EXP SMPDB SMP:00386 NCBI chr 8:124,998,505...125,022,283
Ensembl chr 8:124,998,497...125,022,283
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 EXP SMPDB SMP:00386 NCBI chr11:65,111,872...65,116,230
Ensembl chr11:65,111,845...65,116,384
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 5958
    disease pathway 2076
      nutritional and metabolic disease pathway 694
        metabolic disease pathway 650
          lipid metabolism disease pathway 95
            inborn error of lipid metabolism pathway 95
              desmosterolosis pathway 22
paths to the root