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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:sphingolipidosis pathway
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Accession:PW:0002301 term browser browse the term
Definition:A group of inherited metabolic disorders resulting in abnormal accumulation of sphingolipids in the central nervous system and also visceral organs due to defects in their degradation pathway.
Synonyms:exact_synonym: sphingolipidoses disease pathway


show annotations for term's descendants           Sort by:
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 chr 9:1,794,340...1,824,432
Ensembl chr 9:1,793,139...1,824,434 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00525 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00525 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00525 NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00525 NCBI chr 7:117,225,855...117,269,436
Ensembl chr 7:117,225,855...117,268,759 		JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00525 NCBI chr 6:127,596,063...127,613,293
Ensembl chr 6:127,596,071...127,613,293 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00525 NCBI chr10:104,242,169...104,247,185
Ensembl chr10:104,242,223...104,246,589 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00525 NCBI chr14:78,868,049...78,886,402
Ensembl chr14:78,870,793...78,886,388 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00525 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00525 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00525 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00525 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00525 NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00525 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00525 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00525 NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00525 NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00525 NCBI chr 9:79,762,658...79,884,665
Ensembl chr 9:79,763,284...79,880,457 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00525 NCBI chr 1:96,180,872...96,188,592
Ensembl chr 1:96,180,887...96,188,391 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00525 NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00525 NCBI chr 6:106,948,682...107,031,532
Ensembl chr 6:106,950,949...107,031,542 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00525 NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00525 NCBI chr 2:214,264,483...214,332,769
Ensembl chr 2:214,264,483...214,332,660 		JBrowse link
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 9:1,793,139...1,824,434 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00349 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00349 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00349 NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00349 NCBI chr 7:117,225,855...117,269,436
Ensembl chr 7:117,225,855...117,268,759 		JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00349 NCBI chr 6:127,596,063...127,613,293
Ensembl chr 6:127,596,071...127,613,293 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00349 NCBI chr10:104,242,169...104,247,185
Ensembl chr10:104,242,223...104,246,589 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00349 NCBI chr14:78,868,049...78,886,402
Ensembl chr14:78,870,793...78,886,388 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00349 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00349 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00349 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00349 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00349 NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00349 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00349 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00349 NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00349 NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00349 NCBI chr 9:79,762,658...79,884,665
Ensembl chr 9:79,763,284...79,880,457 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00349 NCBI chr 1:96,180,872...96,188,592
Ensembl chr 1:96,180,887...96,188,391 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00349 NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295 		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 6:106,950,949...107,031,542 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00349 NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00349 NCBI chr 2:214,264,483...214,332,769
Ensembl chr 2:214,264,483...214,332,660 		JBrowse link
metachromatic leukodystrophy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acer1 alkaline ceramidase 1 ISO SMPDB SMP:00347 NCBI chr 9:1,794,340...1,824,432
Ensembl chr 9:1,793,139...1,824,434 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591 		JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00347 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783 		JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chr18:11,958,382...12,015,247
Ensembl chr18:11,958,390...12,015,247 		JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00347 NCBI chr 7:117,225,855...117,269,436
Ensembl chr 7:117,225,855...117,268,759 		JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chr 6:127,596,063...127,613,293
Ensembl chr 6:127,596,071...127,613,293 		JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chr10:104,242,169...104,247,185
Ensembl chr10:104,242,223...104,246,589 		JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chr14:78,868,049...78,886,402
Ensembl chr14:78,870,793...78,886,388 		JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00347 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO SMPDB SMP:00347 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00347 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00347 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108 		JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813 		JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chr 2:44,439,002...44,500,430
Ensembl chr 2:44,438,994...44,501,268 		JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chr 1:229,996,673...230,259,591
Ensembl chr 1:229,998,119...230,259,603 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084 		JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chr 9:79,762,658...79,884,665
Ensembl chr 9:79,763,284...79,880,457 		JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chr 1:96,180,872...96,188,592
Ensembl chr 1:96,180,887...96,188,391 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chr17:11,877,249...11,916,295
Ensembl chr17:11,877,249...11,916,295 		JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chr 6:106,948,682...107,031,532
Ensembl chr 6:106,950,949...107,031,542 		JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393 		JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chr 2:214,264,483...214,332,769
Ensembl chr 2:214,264,483...214,332,660 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    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
                Fabry disease pathway + 23
                Gaucher's disease pathway 23
                metachromatic leukodystrophy pathway 23
Path 2
Term Annotations click to browse term
  pathway 6092
    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
                  Fabry disease pathway + 23
                  Gaucher's disease pathway 23
                  metachromatic leukodystrophy pathway 23
paths to the root