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
Accession: PW:0002106
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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LSS
lanosterol synthase
EXP
SMPDB
SMP:00386
NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
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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
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MVD
mevalonate diphosphate decarboxylase
EXP
SMPDB
SMP:00386
NCBI chr16:88,651,940...88,663,091
Ensembl chr16:88,651,935...88,663,161
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MVK
mevalonate kinase
EXP
SMPDB
SMP:00386
NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
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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
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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
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SC5D
sterol-C5-desaturase
EXP
SMPDB
SMP:00386
NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
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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
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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
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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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all