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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:mevalonic aciduria pathway
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Accession:PW:0001812 term browser browse the term
Definition:An autosomal recessive disorder resulting from defects in mevalonate kinase, one of the two kinases sequentially phosphorylating mevalonate to isopentenyl pyrophosphate in the isoprenoid and cholesterol biosynthetic pathways.
Synonyms:exact_synonym: mevalonate kinase deficiency pathway
 related_synonym: SMP:00509;   SMP:00510;   hyper-IgD syndrome pathway;   hyperimmunoglobulinemia D disease pathway;   mevalonic aciduria disease pathway


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mevalonic aciduria 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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:00509 SMP:00510 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
      nervous system disease pathway 761
        brain disease pathway 350
          inborn error of brain metabolic pathway 319
            mevalonic aciduria pathway 22
Path 2
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      nutritional and metabolic disease pathway 709
        metabolic disease pathway 666
          inborn error of metabolism pathway 529
            inborn error of brain metabolic pathway 319
              mevalonic aciduria pathway 22
paths to the root