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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:sialic acid storage disease pathway
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Accession:PW:0002381 term browser browse the term
Definition:Autosomal recessive neurodegenrative disorder resulting from alterations in lysosomal membrane transport due to defects in the SLC17A5 gene.
Synonyms:related_synonym: SMP:00240;   Salla disease pathway;   infantile sialic acid storage disease pathway

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sialic acid storage 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:00240 NCBI chrNW_004955442:14,775,528...14,791,650
Ensembl chrNW_004955442:14,782,755...14,791,649 		JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955406:39,229,161...39,253,328
Ensembl chrNW_004955406:39,229,356...39,241,540 		JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00240 NCBI chrNW_004955413:17,575,469...17,596,379
Ensembl chrNW_004955413:17,575,469...17,599,859 		JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00240 NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082 		JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955415:11,770,111...11,783,430
Ensembl chrNW_004955415:11,770,063...11,784,188 		JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955409:10,406,248...10,424,431
Ensembl chrNW_004955409:10,406,723...10,424,431 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00240 NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324 		JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00240 NCBI chrNW_004955424:14,205,689...14,215,201
Ensembl chrNW_004955424:14,205,813...14,215,156 		JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00240 NCBI chrNW_004955415:31,453,393...31,460,147
Ensembl chrNW_004955415:31,453,393...31,460,386 		JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00240 NCBI chrNW_004955419:27,424,648...27,449,058
Ensembl chrNW_004955419:27,424,674...27,448,952 		JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00240 NCBI chrNW_004955406:21,633,979...21,670,279
Ensembl chrNW_004955406:21,633,032...21,670,958 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00240 NCBI chrNW_004955411:10,904,022...10,925,613
Ensembl chrNW_004955411:10,904,022...10,924,216 		JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00240 NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00240 NCBI chrNW_004955493:8,693,933...8,719,250
Ensembl chrNW_004955493:8,693,679...8,719,250 		JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00240 NCBI chrNW_004955462:13,765,197...13,799,937
Ensembl chrNW_004955462:13,760,693...13,800,417 		JBrowse link
french type sialuria 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:00216 SMP:00217 NCBI chrNW_004955442:14,775,528...14,791,650
Ensembl chrNW_004955442:14,782,755...14,791,649 		JBrowse link
G Chit1 chitinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955406:39,229,161...39,253,328
Ensembl chrNW_004955406:39,229,356...39,241,540 		JBrowse link
G Cmas cytidine monophosphate N-acetylneuraminic acid synthetase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955413:17,575,469...17,596,379
Ensembl chrNW_004955413:17,575,469...17,599,859 		JBrowse link
G Gfpt1 glutamine--fructose-6-phosphate transaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955424:15,692,088...15,739,894
Ensembl chrNW_004955424:15,692,088...15,739,894 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955472:56,623...92,553
Ensembl chrNW_004955472:45,926...97,082 		JBrowse link
G Gnpda1 glucosamine-6-phosphate deaminase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955415:11,770,111...11,783,430
Ensembl chrNW_004955415:11,770,063...11,784,188 		JBrowse link
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955409:10,406,248...10,424,431
Ensembl chrNW_004955409:10,406,723...10,424,431 		JBrowse link
G Hexa hexosaminidase subunit alpha ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955450:4,790,342...4,806,862
Ensembl chrNW_004955450:4,790,268...4,806,734 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955437:21,733,314...21,824,303
Ensembl chrNW_004955437:21,731,584...21,816,324 		JBrowse link
G Nagk N-acetylglucosamine kinase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955424:14,205,689...14,215,201
Ensembl chrNW_004955424:14,205,813...14,215,156 		JBrowse link
G Nanp N-acetylneuraminic acid phosphatase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955415:31,453,393...31,460,147
Ensembl chrNW_004955415:31,453,393...31,460,386 		JBrowse link
G Nans N-acetylneuraminate synthase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955419:27,424,648...27,449,058
Ensembl chrNW_004955419:27,424,674...27,448,952 		JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955406:21,633,979...21,670,279
Ensembl chrNW_004955406:21,633,032...21,670,958 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955411:10,904,022...10,925,613
Ensembl chrNW_004955411:10,904,022...10,924,216 		JBrowse link
G Renbp renin binding protein ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955493:8,693,933...8,719,250
Ensembl chrNW_004955493:8,693,679...8,719,250 		JBrowse link
G Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 ISO SMPDB SMP:00216 SMP:00217 NCBI chrNW_004955462:13,765,197...13,799,937
Ensembl chrNW_004955462:13,760,693...13,800,417 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 3930
    disease pathway 675
      nervous system disease pathway 427
        brain disease pathway 335
          inborn error of brain metabolic pathway 305
            nervous system lysosomal storage disease pathway 40
              sialic acid storage disease pathway 17
                french type sialuria pathway 17
Path 2
Term Annotations click to browse term
  pathway 3930
    disease pathway 675
      nutritional and metabolic disease pathway 546
        metabolic disease pathway 514
          inborn error of metabolism pathway 497
            lysosomal storage disease pathway 69
              nervous system lysosomal storage disease pathway 40
                sialic acid storage disease pathway 17
                  french type sialuria pathway 17
paths to the root