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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_004624828:4,022,288...4,046,235
Ensembl chrNW_004624828:4,041,875...4,045,675 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004624863:37,148...96,550
Ensembl chrNW_004624863:37,148...95,211 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00525 NCBI chrNW_004624752:149,248...153,625
Ensembl chrNW_004624752:149,187...153,746 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chrNW_004624770:1,119,202...1,239,127
Ensembl chrNW_004624770:1,160,120...1,240,016 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00525 NCBI chrNW_004624752:3,285,649...3,328,131
Ensembl chrNW_004624752:3,285,637...3,326,738 		JBrowse link
G Degs2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chrNW_004624734:3,913,159...3,925,309
Ensembl chrNW_004624734:3,913,169...3,926,156 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chrNW_004624801:8,895,138...8,901,848
Ensembl chrNW_004624801:8,895,836...8,903,952 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chrNW_004625705:1,409...4,810
Ensembl chrNW_004625705:2,469...4,916 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00525 NCBI chrNW_004624734:14,355,349...14,462,869
Ensembl chrNW_004624734:14,355,435...14,407,087 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00525 NCBI chrNW_004624885:2,315,371...2,321,327
Ensembl chrNW_004624885:2,315,142...2,321,327 		JBrowse link
G Gla galactosidase alpha ISO SMPDB SMP:00525 NCBI chrNW_004624902:1,163,360...1,173,087
Ensembl chrNW_004624902:1,163,611...1,173,177 		JBrowse link
G Glb1 galactosidase beta 1 ISO SMPDB SMP:00525 NCBI chrNW_004624788:10,970,657...11,110,839
Ensembl chrNW_004624788:10,970,652...11,111,722 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chrNW_004624792:9,038,076...9,081,650
Ensembl chrNW_004624792:9,040,999...9,082,154 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chrNW_004624817:2,107,893...2,133,626 JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chrNW_004624759:3,780,904...3,868,867
Ensembl chrNW_004624759:3,780,826...3,868,869 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chrNW_004624791:13,096,268...13,490,220
Ensembl chrNW_004624791:13,097,808...13,146,544 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chrNW_004624754:4,844,472...4,889,006
Ensembl chrNW_004624754:4,844,552...4,886,709 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chrNW_004624823:2,635,128...2,756,566
Ensembl chrNW_004624823:2,638,257...2,756,448 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chrNW_004624832:5,246,328...5,254,247
Ensembl chrNW_004624832:5,246,895...5,253,207 		JBrowse link
G Sptlc1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chrNW_004624868:317,992...393,776
Ensembl chrNW_004624868:318,059...393,773 		JBrowse link
G Sptlc2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chrNW_004624734:24,281,482...24,400,870 JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chrNW_004624760:23,059,141...23,094,013
Ensembl chrNW_004624760:23,056,929...23,094,010 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chrNW_004624867:1,182,674...1,255,714
Ensembl chrNW_004624867:1,182,589...1,255,796 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3922
    disease pathway 670
      congenital disease pathway 493
        inborn genetic disease pathway 493
          X-linked genetic disease pathway 91
            Fabry disease pathway 23
              Fabry disease pathway, cerebrovascular 0
Path 2
Term Annotations click to browse term
  pathway 3922
    disease pathway 670
      nutritional and metabolic disease pathway 544
        metabolic disease pathway 510
          inborn error of metabolism pathway 493
            lysosomal storage disease pathway 69
              nervous system lysosomal storage disease pathway 39
                sphingolipidosis pathway 23
                  Fabry disease pathway 23
                    Fabry disease pathway, cerebrovascular 0
paths to the root