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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:X-linked dominant chondrodysplasia punctata 2 pathway
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Accession:PW:0002591 term browser browse the term
Definition:The better characterized form of chondrodysplasia punctata due to defects in the Ebp gene involved in the cholesterol biosynthetic pathway.
Synonyms:exact_synonym: CDPXD pathway;   CONRADI-HUNERMANN SYNDROME pathway;   CONRADI-HUNERMANN-HAPPLE SYNDROME pathway;   CPXD pathway;   HAPPLE SYNDROME pathway;   X-linked dominant chondrodysplasia punctata 2 disease pathway
 related_synonym: SMP:00388


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X-linked dominant chondrodysplasia punctata 2 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:00388 NCBI chr 1:47,695,833...47,713,879
Ensembl chr 1:47,695,788...47,752,821 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO SMPDB SMP:00388 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410 		JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO SMPDB SMP:00388 NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO SMPDB SMP:00388 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO SMPDB SMP:00388 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO SMPDB SMP:00388 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO SMPDB SMP:00388 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO SMPDB SMP:00388 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO SMPDB SMP:00388 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100 		JBrowse link
G Hsd17b7 hydroxysteroid (17-beta) dehydrogenase 7 ISO SMPDB SMP:00388 NCBI chr13:82,170,079...82,190,018
Ensembl chr13:82,173,179...82,190,017 		JBrowse link
G Idi1 isopentenyl-diphosphate delta isomerase 1 ISO SMPDB SMP:00388 NCBI chr17:61,629,592...61,637,357
Ensembl chr17:61,629,594...61,637,357 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO SMPDB SMP:00388 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Lss lanosterol synthase ISO SMPDB SMP:00388 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Msmo1 methylsterol monooxygenase 1 ISO SMPDB SMP:00388 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO SMPDB SMP:00388 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Mvk mevalonate kinase ISO SMPDB SMP:00388 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO SMPDB SMP:00388 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Pmvk phosphomevalonate kinase ISO SMPDB SMP:00388 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		JBrowse link
G Sc5d sterol-C5-desaturase ISO SMPDB SMP:00388 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273 		JBrowse link
G Soat1 sterol O-acyltransferase 1 ISO SMPDB SMP:00388 NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494 		JBrowse link
G Sqle squalene epoxidase ISO SMPDB SMP:00388 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618 		JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO SMPDB SMP:00388 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      congenital disease pathway 530
        inborn genetic disease pathway 530
          X-linked genetic disease pathway 92
            X-linked dominant chondrodysplasia punctata 2 pathway 22
Path 2
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      congenital disease pathway 530
        inborn genetic disease pathway 530
          osteochondrodysplasia pathway 22
            chondrodysplasia punctata pathway 22
              X-linked dominant chondrodysplasia punctata 2 pathway 22
paths to the root