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Pathways
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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:inborn error of steroid metabolism pathway
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Accession:PW:0002102 term browser browse the term
Definition:Those disorders resulting from alterations in steroid metabolic pathways due to inborn genetic mutations.
Synonyms:exact_synonym: inborn error of steroid metabolism disease pathway

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apparent mineralocorticoid excess syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00717 NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321 		JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00717 NCBI chr 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO SMPDB SMP:00717 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO SMPDB SMP:00717 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO SMPDB SMP:00717 NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO SMPDB SMP:00717 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO SMPDB SMP:00717 NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO SMPDB SMP:00717 NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO SMPDB SMP:00717
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO SMPDB SMP:00717 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929 		JBrowse link
congenital bile acid synthesis defect pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO SMPDB SMP:00314 SMP:00318 NCBI chr15:18,449,304...18,481,472
Ensembl chr15:18,451,144...18,481,470 		JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321 		JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00314 SMP:00318 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326 		JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO SMPDB SMP:00314 SMP:00318 NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368 		JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00314 SMP:00318 NCBI chr 1:252,807,062...252,811,409
Ensembl chr 1:252,807,065...252,808,380 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169 		JBrowse link
G Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 9:19,804,079...19,880,346
Ensembl chr 9:19,804,079...19,880,346 		JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 6:132,242,328...132,273,788
Ensembl chr 6:132,242,328...132,273,787 		JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 5:19,358,734...19,368,431
Ensembl chr 5:19,358,734...19,368,431 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257 		JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 8:130,548,418...130,550,388
Ensembl chr 8:130,548,418...130,550,388 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO SMPDB SMP:00314 SMP:00318 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640 		JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 1:199,248,084...199,251,745
Ensembl chr 1:199,248,470...199,251,740 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00314 SMP:00318 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904 		JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739 		JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00314 SMP:00318 NCBI chr 1:65,576,599...65,587,192
Ensembl chr 1:65,576,535...65,587,186 		JBrowse link
familial hypercholanemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO SMPDB SMP:00317 NCBI chr15:18,449,304...18,481,472
Ensembl chr15:18,451,144...18,481,470 		JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO SMPDB SMP:00317 NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321 		JBrowse link
G Akr1d1 aldo-keto reductase family 1, member D1 ISO SMPDB SMP:00317 NCBI chr 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO SMPDB SMP:00317 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326 		JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO SMPDB SMP:00317 NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368 		JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO SMPDB SMP:00317 NCBI chr 1:252,807,062...252,811,409
Ensembl chr 1:252,807,065...252,808,380 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO SMPDB SMP:00317 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169 		JBrowse link
G Cyp39a1 cytochrome P450, family 39, subfamily a, polypeptide 1 ISO SMPDB SMP:00317 NCBI chr 9:19,804,079...19,880,346
Ensembl chr 9:19,804,079...19,880,346 		JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO SMPDB SMP:00317 NCBI chr 6:132,242,328...132,273,788
Ensembl chr 6:132,242,328...132,273,787 		JBrowse link
G Cyp7a1 cytochrome P450 family 7 subfamily A member 1 ISO SMPDB SMP:00317 NCBI chr 5:19,358,734...19,368,431
Ensembl chr 5:19,358,734...19,368,431 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO SMPDB SMP:00317 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257 		JBrowse link
G Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO SMPDB SMP:00317 NCBI chr 8:130,548,418...130,550,388
Ensembl chr 8:130,548,418...130,550,388 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO SMPDB SMP:00317 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640 		JBrowse link
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO SMPDB SMP:00317 NCBI chr 1:199,248,084...199,251,745
Ensembl chr 1:199,248,470...199,251,740 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00317 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904 		JBrowse link
G Scp2 sterol carrier protein 2 ISO SMPDB SMP:00317 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739 		JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO SMPDB SMP:00317 NCBI chr 1:65,576,599...65,587,192
Ensembl chr 1:65,576,535...65,587,186 		JBrowse link
Smith-Lemli-Opitz Syndrome 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:00389 NCBI chr 1:47,972,399...47,992,654
Ensembl chr 1:47,972,399...47,992,653 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00389 NCBI chr 4:27,175,564...27,194,018
Ensembl chr 4:27,175,243...27,194,018 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00389 NCBI chr 5:126,164,708...126,188,926
Ensembl chr 5:126,164,674...126,191,206 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00389 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00389 NCBI chr15:46,339,248...46,367,302
Ensembl chr15:46,339,249...46,367,302 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00389 NCBI chr 2:188,403,595...188,413,219
Ensembl chr 2:188,392,858...188,413,219 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00389 NCBI chr17:53,956,185...53,971,039
Ensembl chr17:53,956,203...53,971,443 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00389 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00389 NCBI chr 2:52,427,351...52,445,082
Ensembl chr 2:52,431,601...52,445,055 		JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00389 NCBI chr13:88,288,116...88,308,019
Ensembl chr13:88,288,046...88,307,988 		JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00389 NCBI chr17:57,976,266...57,984,036
Ensembl chr17:57,976,268...57,984,036 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00389 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904 		JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00389 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497 		JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00389 NCBI chr16:26,859,441...26,875,880
Ensembl chr16:26,859,397...26,875,973 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00389 NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951 		JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00389 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00389 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390 		JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00389 NCBI chr 2:188,784,329...188,793,890
Ensembl chr 2:188,784,222...188,793,895 		JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00389 NCBI chr 8:46,525,406...46,537,014
Ensembl chr 8:46,525,400...46,537,050 		JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00389 NCBI chr13:74,035,258...74,077,759
Ensembl chr13:74,035,080...74,077,783 		JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00389 NCBI chr 7:99,609,929...99,624,803
Ensembl chr 7:99,609,191...99,624,732 		JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00389 NCBI chr 1:221,426,017...221,430,340
Ensembl chr 1:221,425,987...221,431,713 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      congenital disease pathway 529
        inborn genetic disease pathway 529
          inborn error of metabolism pathway 529
            inborn error of steroid metabolism pathway 46
              Smith-Lemli-Opitz Syndrome pathway 22
              apparent mineralocorticoid excess syndrome pathway 10
              congenital bile acid synthesis defect pathway 17
              familial hypercholanemia pathway 17
paths to the root