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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:metachromatic leukodystrophy pathway
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Accession:PW:0002532 term browser browse the term
Definition:An autosomal recessive condition resulting from alterations in cerebroside metabolism due to defects in the cerebroside sulfatase enzyme.
Synonyms:exact_synonym: Scholz cerebral sclerosis pathway;   arylsulfatase A deficiency pathway;   deficiency of cerebroside-sulfatase pathway;   metachromatic leukodystrophy disease pathway;   sulfatide lipoidosis pathway
 related_synonym: MLD pathway;   SMP:00347


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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 9:10,061,978...10,093,588
Ensembl chr 9:10,061,978...10,093,588
JBrowse link
G Acer3 alkaline ceramidase 3 ISO SMPDB SMP:00347 NCBI chr 1:163,160,987...163,263,621
Ensembl chr 1:163,160,979...163,263,606
JBrowse link
G Arsa arylsulfatase A ISO SMPDB SMP:00347 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
JBrowse link
G B4galt6 beta-1,4-galactosyltransferase 6 ISO SMPDB SMP:00347 NCBI chr18:15,462,913...15,525,584
Ensembl chr18:15,462,913...15,525,579
JBrowse link
G Cerk ceramide kinase ISO SMPDB SMP:00347 NCBI chr 7:127,015,162...127,058,056
Ensembl chr 7:127,015,162...127,058,056
JBrowse link
G Degs2 delta(4)-desaturase, sphingolipid 2 ISO SMPDB SMP:00347 NCBI chr 6:132,591,968...132,608,600
Ensembl chr 6:132,591,969...132,608,600
JBrowse link
G Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO SMPDB SMP:00347 NCBI chr10:108,095,131...108,099,483
Ensembl chr10:108,095,131...108,099,483
JBrowse link
G Gal3st1 galactose-3-O-sulfotransferase 1 ISO SMPDB SMP:00347 NCBI chr14:84,231,473...84,247,371
Ensembl chr14:84,231,639...84,247,369
JBrowse link
G Galc galactosylceramidase ISO SMPDB SMP:00347 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614
JBrowse link
G Gba glucosylceramidase beta ISO SMPDB SMP:00347 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00347 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00347 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO SMPDB SMP:00347 NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215
JBrowse link
G Neu3 neuraminidase 3 ISO SMPDB SMP:00347 NCBI chr 1:164,803,574...164,814,777
Ensembl chr 1:164,803,574...164,814,651
JBrowse link
G Plpp1 phospholipid phosphatase 1 ISO SMPDB SMP:00347 NCBI chr 2:44,664,076...44,726,820
Ensembl chr 2:44,664,124...44,726,689
JBrowse link
G Sgms1 sphingomyelin synthase 1 ISO SMPDB SMP:00347 NCBI chr 1:250,692,448...250,951,685
Ensembl chr 1:250,691,370...250,951,697
JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO SMPDB SMP:00347 NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940
JBrowse link
G Sgpp2 sphingosine-1-phosphate phosphatase 2 ISO SMPDB SMP:00347 NCBI chr 9:84,203,094...84,321,269
Ensembl chr 9:84,203,072...84,319,874
JBrowse link
G Sphk2 sphingosine kinase 2 ISO SMPDB SMP:00347 NCBI chr 1:101,692,972...101,700,604
Ensembl chr 1:101,692,973...101,697,277
JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO SMPDB SMP:00347 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO SMPDB SMP:00347 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954
JBrowse link
G Ugcg UDP-glucose ceramide glucosyltransferase ISO SMPDB SMP:00347 NCBI chr 5:76,376,722...76,419,564
Ensembl chr 5:76,386,836...76,419,560
JBrowse link
G Ugt8 UDP glycosyltransferase 8 ISO SMPDB SMP:00347 NCBI chr 2:229,644,373...229,718,678
Ensembl chr 2:229,644,382...229,718,659
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      nervous system disease pathway 761
        brain disease pathway 350
          inborn error of brain metabolic pathway 319
            hereditary central nervous system demyelinating disease pathway 23
              metachromatic leukodystrophy pathway 23
Path 2
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      congenital disease pathway 529
        inborn genetic disease pathway 529
          inborn error of metabolism pathway 529
            inborn error of brain metabolic pathway 319
              nervous system lysosomal storage disease pathway 40
                sphingolipidosis pathway 23
                  metachromatic leukodystrophy pathway 23
paths to the root