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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:Tay-Sachs disease pathway
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Accession:PW:0001631 term browser browse the term
Definition:There are several forms of Tay-Sachs disease resulting from mutations in the lysosomal hexosaminidase A enzyme. The accumulation of gangliosides in nerve cells leads to loss of mental and physical abilities, neurodegeneration and eventually death.
Synonyms:exact_synonym: hexosaminidase A deficiency pathway
 related_synonym: SMP:00390


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Tay-Sachs disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amdhd2 amidohydrolase domain containing 2 ISO SMPDB SMP:00390 NCBI chr10:13,528,400...13,536,949
Ensembl chr10:13,528,413...13,536,899
JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00390 NCBI chr13:50,947,020...50,994,644
Ensembl chr13:50,974,872...50,994,643
JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00390 NCBI chr 4:176,994,129...177,012,445
Ensembl chr 4:176,994,129...177,012,444
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00390 NCBI chr 4:118,852,046...118,901,583
Ensembl chr 4:118,852,062...118,901,591
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00390 NCBI chr 5:59,511,738...59,553,421
Ensembl chr 5:59,512,872...59,553,416
JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00390 NCBI chr18:31,479,117...31,489,154
Ensembl chr18:31,479,117...31,487,671
JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00390 NCBI chr15:19,721,292...19,734,032
Ensembl chr15:19,721,293...19,733,967
JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00390 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00390 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00390 NCBI chr 4:115,473,848...115,485,027
Ensembl chr 4:115,473,811...115,481,438
JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00390 NCBI chr 3:146,800,018...146,812,988
Ensembl chr 3:146,800,019...146,812,989
JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00390 NCBI chr 5:62,109,352...62,126,492
Ensembl chr 5:62,109,328...62,126,494
JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00390 NCBI chr13:70,938,073...70,981,179
Ensembl chr13:70,938,082...70,980,913
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00390 NCBI chr 8:94,225,513...94,243,230
Ensembl chr 8:94,225,515...94,243,215
JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00390 NCBI chr  X:156,854,490...156,863,548
Ensembl chr  X:156,854,594...156,863,528
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00390 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450
JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00390 NCBI chr13:88,463,532...88,497,901
Ensembl chr13:88,463,532...88,497,901
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
          Tay-Sachs disease pathway 17
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
            lysosomal storage disease pathway 70
              nervous system lysosomal storage disease pathway 40
                Tay-Sachs disease pathway 17
paths to the root