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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:Fabry disease pathway
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Accession:PW:0002103 term browser browse the term
Definition:An X-linked inherited metabolic disorder resulting from alterations in lipid metabolic pathways. It is due to defects in alpha-galactosidase leading to accumulation of glycosphingolipids in blood vessels.
Synonyms:related_synonym: SMP:00525


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Fabry disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACER1 alkaline ceramidase 1 EXP SMPDB SMP:00525 NCBI chr19:6,306,142...6,360,368
Ensembl chr19:6,306,142...6,333,612 		JBrowse link
G ACER3 alkaline ceramidase 3 EXP SMPDB SMP:00525 NCBI chr11:76,860,918...77,026,797
Ensembl chr11:76,860,859...77,026,797 		JBrowse link
G ARSA arylsulfatase A EXP SMPDB SMP:00525 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 EXP SMPDB SMP:00525 NCBI chr18:31,622,246...31,724,641
Ensembl chr18:31,622,246...31,685,836 		JBrowse link
G CERK ceramide kinase EXP SMPDB SMP:00525 NCBI chr22:46,684,410...46,738,252
Ensembl chr22:46,684,410...46,738,252 		JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 EXP SMPDB SMP:00525 NCBI chr14:100,143,957...100,166,886
Ensembl chr14:100,143,957...100,159,645 		JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 EXP SMPDB SMP:00525 NCBI chr17:79,730,943...79,742,219
Ensembl chr17:79,730,943...79,742,219 		JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 EXP SMPDB SMP:00525 NCBI chr22:30,554,635...30,574,665
Ensembl chr22:30,554,635...30,574,665 		JBrowse link
G GALC galactosylceramidase EXP SMPDB SMP:00525 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GBA1 glucosylceramidase beta 1 EXP SMPDB SMP:00525 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GLA galactosidase alpha EXP SMPDB SMP:00525 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G GLB1 galactosidase beta 1 EXP SMPDB SMP:00525 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase EXP SMPDB SMP:00525 NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228 		JBrowse link
G NEU3 neuraminidase 3 EXP SMPDB SMP:00525 NCBI chr11:74,980,515...75,020,676
Ensembl chr11:74,988,279...75,018,893 		JBrowse link
G PLPP1 phospholipid phosphatase 1 EXP SMPDB SMP:00525 NCBI chr 5:55,424,854...55,534,964
Ensembl chr 5:55,424,854...55,534,969 		JBrowse link
G SGMS1 sphingomyelin synthase 1 EXP SMPDB SMP:00525 NCBI chr10:50,305,600...50,625,184
Ensembl chr10:50,305,586...50,625,163 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 EXP SMPDB SMP:00525 NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,895,816 		JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 EXP SMPDB SMP:00525 NCBI chr 2:222,423,988...222,562,621
Ensembl chr 2:222,424,543...222,562,621 		JBrowse link
G SPHK2 sphingosine kinase 2 EXP SMPDB SMP:00525 NCBI chr19:48,619,506...48,630,405
Ensembl chr19:48,619,291...48,630,717 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 EXP SMPDB SMP:00525 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413 		JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 EXP SMPDB SMP:00525 NCBI chr14:77,505,997...77,616,637
Ensembl chr14:77,505,997...77,616,637 		JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase EXP SMPDB SMP:00525 NCBI chr 9:111,896,814...111,935,369
Ensembl chr 9:111,896,814...111,935,369 		JBrowse link
G UGT8 UDP glycosyltransferase 8 EXP SMPDB SMP:00525 NCBI chr 4:114,598,402...114,678,225
Ensembl chr 4:114,598,770...114,678,225 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 5958
    disease pathway 2076
      congenital disease pathway 536
        inborn genetic disease pathway 536
          X-linked genetic disease pathway 92
            Fabry disease pathway 23
              Fabry disease pathway, cerebrovascular 0
Path 2
Term Annotations click to browse term
  pathway 5958
    disease pathway 2076
      nutritional and metabolic disease pathway 694
        metabolic disease pathway 650
          inborn error of metabolism pathway 536
            lysosomal storage disease pathway 71
              nervous system lysosomal storage disease pathway 40
                sphingolipidosis pathway 23
                  Fabry disease pathway 23
                    Fabry disease pathway, cerebrovascular 0
paths to the root