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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 ISO SMPDB SMP:00525 NCBI chrNW_004936588:3,688,244...3,705,831
Ensembl chrNW_004936588:3,688,244...3,705,831 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004936498:5,496,991...5,653,206
Ensembl chrNW_004936498:5,496,991...5,653,206 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00525 NCBI chrNW_004936629:187,281...205,493
Ensembl chrNW_004936629:187,275...191,008 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chrNW_004936682:1,535,617...1,590,723
Ensembl chrNW_004936682:1,535,586...1,593,827 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00525 NCBI chrNW_004936629:3,304,236...3,346,264
Ensembl chrNW_004936629:3,304,236...3,344,136 		JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chrNW_004936604:3,821,672...3,839,975
Ensembl chrNW_004936604:3,817,886...3,839,986 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chrNW_004936594:3,855,071...3,864,034
Ensembl chrNW_004936594:3,855,150...3,858,317 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936904:142,576...158,606
Ensembl chrNW_004936904:142,387...159,633 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00525 NCBI chrNW_004936488:15,444,184...15,519,395
Ensembl chrNW_004936488:15,444,801...15,518,856 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00525 NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798 		JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00525 NCBI chrNW_004936813:474,938...484,753
Ensembl chrNW_004936813:474,949...484,760 		JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00525 NCBI chrNW_004936473:23,348,431...23,440,271
Ensembl chrNW_004936473:23,348,416...23,440,196 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chrNW_004936497:2,169,982...2,199,600
Ensembl chrNW_004936497:2,169,712...2,203,150 		JBrowse link
G LOC101967158 serine palmitoyltransferase 2 ISO SMPDB SMP:00525 NCBI chrNW_004936488:6,313,189...6,404,425
Ensembl chrNW_004936488:6,289,833...6,296,849
Ensembl chrNW_004936488:6,289,833...6,296,849 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004936498:3,897,511...3,915,013
Ensembl chrNW_004936498:3,897,485...3,910,115 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936480:12,265,304...12,357,747
Ensembl chrNW_004936480:12,265,246...12,359,450 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936735:1,702,754...1,984,141
Ensembl chrNW_004936735:1,943,352...1,984,141 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chrNW_004936521:7,850,370...7,899,998
Ensembl chrNW_004936521:7,848,972...7,900,041 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chrNW_004936569:4,405,804...4,518,637
Ensembl chrNW_004936569:4,406,253...4,518,655 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chrNW_004936664:2,668,708...2,676,608
Ensembl chrNW_004936664:2,669,920...2,676,587 		JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chrNW_004936796:886,946...948,254
Ensembl chrNW_004936796:886,922...948,254 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chrNW_004936559:1,475,684...1,513,273
Ensembl chrNW_004936559:1,475,592...1,513,273 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chrNW_004936563:5,251,451...5,305,683
Ensembl chrNW_004936563:5,224,173...5,306,120 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3951
    disease pathway 688
      congenital disease pathway 507
        inborn genetic disease pathway 507
          X-linked genetic disease pathway 91
            Fabry disease pathway 23
              Fabry disease pathway, cerebrovascular 0
Path 2
Term Annotations click to browse term
  pathway 3951
    disease pathway 688
      nutritional and metabolic disease pathway 558
        metabolic disease pathway 523
          inborn error of metabolism pathway 507
            lysosomal storage disease pathway 68
              nervous system lysosomal storage disease pathway 39
                sphingolipidosis pathway 23
                  Fabry disease pathway 23
                    Fabry disease pathway, cerebrovascular 0
paths to the root