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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 (https://rgd.mcw.edu/rgdweb/contact/contactus.html).
Term:Gaucher's disease pathway
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Accession:PW:0001454 term browser browse the term
Definition:Gaucher's disease is caused by defective sphingolipid metabolism and accumulation of glucosylceramide in the brain and other tissues.
Synonyms:exact_synonym: Gaucher disease pathway;   acid beta-glucosidase deficiency pathway;   glocucerebrosidase deficiency pathway;   glucosylceramide beta-glucosidase deficiency pathway;   kerasin thesaurismosis pathway;   lipoid histiocytosis (kerasin type) pathway
 related_synonym: SMP:00349


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Gaucher's disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00349 NCBI chr 9:1,794,340...1,824,432
Ensembl chr 9:1,881,361...1,919,416 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:161,915,397...162,017,912 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00349 NCBI chr 7:122,422,971...122,426,971
Ensembl chr 7:122,422,982...122,428,401 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chr18:11,958,382...12,015,247
Ensembl chr18:12,233,351...12,290,204 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00349 NCBI chr 7:117,225,855...117,269,436
Ensembl chr 7:119,105,674...119,148,570 		JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chr 6:127,596,063...127,613,293
Ensembl chr 6:133,360,457...133,364,422 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chr10:104,242,169...104,247,185
Ensembl chr10:104,740,763...104,745,760 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chr14:83,094,265...83,109,992
Ensembl chr14:83,094,385...83,109,978 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00349 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:123,182,643...123,245,578 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00349 NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:176,907,154...176,916,985 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00349 NCBI chr  X:102,062,497...102,073,915
Ensembl chr  X:102,056,718...102,073,915 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00349 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:122,963,718...123,036,326 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chr13:23,374,101...23,408,779
Ensembl chr13:23,376,779...23,408,897 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chr 1:163,549,834...163,560,997
Ensembl chr 1:163,549,738...163,561,049 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:46,172,197...46,234,676 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:239,409,991...239,505,774 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,592,721...29,667,753 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chr 9:79,762,658...79,884,665
Ensembl chr 9:87,211,717...87,333,132 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chr 1:96,180,872...96,188,592
Ensembl chr 1:105,317,333...105,321,637 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chr17:11,877,249...11,916,295
Ensembl chr17:12,029,189...12,068,234 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00349 NCBI chr 6:106,948,682...107,031,532
Ensembl chr 6:112,679,623...112,762,640 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:78,828,006...78,860,417 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chr 2:214,264,483...214,332,769
Ensembl chr 2:216,938,990...217,007,167 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6091
    disease pathway 1954
      congenital disease pathway 530
        inborn genetic disease pathway 530
          inborn error of metabolism pathway 530
            inborn error of lipid metabolism pathway 95
              sphingolipidosis pathway 23
                Gaucher's disease pathway 23
Path 2
Term Annotations click to browse term
  pathway 6091
    disease pathway 1954
      nutritional and metabolic disease pathway 709
        metabolic disease pathway 666
          inborn error of metabolism pathway 530
            lysosomal storage disease pathway 70
              nervous system lysosomal storage disease pathway 40
                sphingolipidosis pathway 23
                  Gaucher's disease pathway 23
paths to the root