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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 chr19:5,327,251...5,393,587
Ensembl chr19:6,252,300...6,281,016 		JBrowse link
G ACER3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chr11:71,911,204...72,077,528
Ensembl chr11:75,557,846...75,717,586 		JBrowse link
G ARSA arylsulfatase A ISO SMPDB SMP:00525 NCBI chr22:30,868,812...30,871,970
Ensembl chr22:49,978,955...49,982,099 		JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chr18:24,840,106...24,906,309
Ensembl chr18:28,438,302...28,500,946 		JBrowse link
G CERK ceramide kinase ISO SMPDB SMP:00525 NCBI chr22:26,849,865...26,905,545
Ensembl chr22:45,749,887...45,786,570 		JBrowse link
G DEGS2 delta 4-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chr14:80,767,334...80,813,506
Ensembl chr14:100,086,782...100,100,741 		JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chr17:73,811,249...73,822,719
Ensembl chr17:79,347,505...79,359,349 		JBrowse link
G GAL3ST1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chr22:11,582,915...11,602,936
Ensembl chr22:29,382,779...29,393,042 		JBrowse link
G GALC galactosylceramidase ISO SMPDB SMP:00525 NCBI chr14:68,545,070...68,605,730
Ensembl chr14:87,905,098...87,965,770 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO SMPDB SMP:00525 NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851 		JBrowse link
G GLA galactosidase alpha ISO SMPDB SMP:00525 NCBI chr  X:90,600,412...90,610,594
Ensembl chr  X:100,732,311...100,742,280 		JBrowse link
G GLB1 galactosidase beta 1 ISO SMPDB SMP:00525 NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chr18:56,686,914...56,727,681
Ensembl chr18:60,001,637...60,036,292 		JBrowse link
G NEU3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chr11:70,047,878...70,070,303
Ensembl chr11:73,353,332...73,373,270 		JBrowse link
G PLPP1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chr 5:58,495,348...58,605,309
Ensembl chr 5:60,160,274...60,227,806 		JBrowse link
G SGMS1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chr10:46,960,159...47,273,353
Ensembl chr10:49,076,984...49,116,154 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chr10:67,286,349...67,351,574
Ensembl chr10:69,812,092...69,876,438 		JBrowse link
G SGPP2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chr2B:109,668,923...109,803,950
Ensembl chr2B:228,300,673...228,381,565 		JBrowse link
G SPHK2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chr19:45,620,980...45,631,786
Ensembl chr19:54,213,166...54,224,767 		JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chr 9:63,087,798...63,174,977 JBrowse link
G SPTLC2 serine palmitoyltransferase long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chr14:58,066,123...58,170,472
Ensembl chr14:77,266,545...77,370,663 		JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chr 9:83,024,602...83,065,017
Ensembl chr 9:111,184,478...111,222,613 		JBrowse link
G UGT8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chr 4:107,113,476...107,199,272
Ensembl chr 4:117,676,810...117,762,729 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4069
    disease pathway 714
      congenital disease pathway 525
        inborn genetic disease pathway 525
          X-linked genetic disease pathway 92
            Fabry disease pathway 23
              Fabry disease pathway, cerebrovascular 0
Path 2
Term Annotations click to browse term
  pathway 4069
    disease pathway 714
      nutritional and metabolic disease pathway 581
        metabolic disease pathway 542
          inborn error of metabolism pathway 525
            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