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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: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 Chit1 chitinase 1 ISO SMPDB SMP:00390 NCBI chrNW_004936567:1,373,727...1,385,694
Ensembl chrNW_004936567:1,376,768...1,385,616 		JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00390 NCBI chrNW_004936548:4,877,753...4,895,768
Ensembl chrNW_004936548:4,877,530...4,895,822 		JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00390 NCBI chrNW_004936491:13,603,256...13,665,298
Ensembl chrNW_004936491:13,603,256...13,665,275 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00390 NCBI chrNW_004936524:4,184,831...4,234,257
Ensembl chrNW_004936524:4,196,830...4,252,163 		JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00390 NCBI chrNW_004936504:12,181,544...12,192,596 JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00390 NCBI chrNW_004936697:2,079,396...2,087,602
Ensembl chrNW_004936697:2,079,470...2,086,877 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00390 NCBI chrNW_004936471:31,712,485...31,738,273
Ensembl chrNW_004936471:31,709,491...31,738,245 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00390 NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793 		JBrowse link
G LOC101977071 sialin ISO SMPDB SMP:00390 NCBI chrNW_004936859:668,900...684,207 JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00390 NCBI chrNW_004936491:15,183,493...15,193,069
Ensembl chrNW_004936491:15,183,804...15,192,950 		JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00390 NCBI chrNW_004936620:235,013...245,138
Ensembl chrNW_004936620:234,964...246,803 		JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00390 NCBI chrNW_004936524:6,772,831...6,791,854
Ensembl chrNW_004936524:6,772,796...6,791,902 		JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00390 NCBI chrNW_004936481:6,942,128...6,977,042
Ensembl chrNW_004936481:6,942,282...6,972,775 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00390 NCBI chrNW_004936510:7,586,817...7,622,586
Ensembl chrNW_004936510:7,586,837...7,609,267 		JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00390 NCBI chrNW_004936809:817,392...823,926
Ensembl chrNW_004936809:817,355...823,941 		JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00390 NCBI chrNW_004936831:733,072...770,495
Ensembl chrNW_004936831:732,967...771,478 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3951
    disease pathway 688
      nervous system disease pathway 434
        brain disease pathway 341
          Tay-Sachs disease pathway 16
Path 2
Term Annotations click to browse term
  pathway 3951
    disease pathway 688
      congenital disease pathway 507
        inborn genetic disease pathway 507
          inborn error of metabolism pathway 507
            lysosomal storage disease pathway 68
              nervous system lysosomal storage disease pathway 39
                Tay-Sachs disease pathway 16
paths to the root