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: familial hypercholanemia pathway
Accession: PW:0002302
browse the term
Definition: A condition characterized by elevated serum bile acid concentration that can be due to defects in any of several genes.
Synonyms: exact_synonym: familial hypercholanemia disease pathway
related_synonym: FHCA disease pathway; SMP:00317
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Acox2
acyl-CoA oxidase 2
ISO
SMPDB
SMP:00317
NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160
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Akr1c1
aldo-keto reductase family 1, member C1
ISO
SMPDB
SMP:00317
NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
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Akr1d1
aldo-keto reductase family 1, member D1
ISO
SMPDB
SMP:00317
NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
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Amacr
alpha-methylacyl-CoA racemase
ISO
SMPDB
SMP:00317
NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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Baat
bile acid CoA:amino acid N-acyltransferase
ISO
SMPDB
SMP:00317
NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
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Ch25h
cholesterol 25-hydroxylase
ISO
SMPDB
SMP:00317
NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
SMPDB
SMP:00317
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Cyp39a1
cytochrome P450, family 39, subfamily a, polypeptide 1
ISO
SMPDB
SMP:00317
NCBI chr 9:17,230,455...17,306,775
Ensembl chr 9:17,230,455...17,306,775
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Cyp46a1
cytochrome P450, family 46, subfamily a, polypeptide 1
ISO
SMPDB
SMP:00317
NCBI chr 6:127,247,543...127,274,765
Ensembl chr 6:127,243,315...127,274,760
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Cyp7a1
cytochrome P450 family 7 subfamily A member 1
ISO
SMPDB
SMP:00317
NCBI chr 5:19,376,979...19,386,676
Ensembl chr 5:19,376,974...19,386,688
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Cyp7b1
cytochrome P450 family 7 subfamily B member 1
ISO
SMPDB
SMP:00317
NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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Cyp8b1
cytochrome P450 family 8 subfamily B member 1
ISO
SMPDB
SMP:00317
NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
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Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
ISO
SMPDB
SMP:00317
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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Hsd3b7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ISO
SMPDB
SMP:00317
NCBI chr 1:182,412,216...182,415,447
Ensembl chr 1:182,412,151...182,415,442
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Lipa
lipase A, lysosomal acid type
ISO
SMPDB
SMP:00317
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
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Scp2
sterol carrier protein 2
ISO
SMPDB
SMP:00317
NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287
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Slc27a5
solute carrier family 27 member 5
ISO
SMPDB
SMP:00317
NCBI chr 1:73,616,556...73,627,149
Ensembl chr 1:73,616,564...73,627,172
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all