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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:congenital sucrase-isomaltase deficiency pathway
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Accession:PW:0001648 term browser browse the term
Definition:A congenital disorder of sucrose metabolism resulting from mutations in the enzyme involved in the hydrolysis of dietary sugars.
Synonyms:exact_synonym: Sucrase-isomaltase deficiency pathway
 related_synonym: SI deficiency pathway;   SMP:00557;   congenital sucrose intolerance pathway;   congenital sucrose-isomaltose malabsorption pathway;   disaccharide intolerance I pathway


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congenital sucrase-isomaltase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase ISO SMPDB SMP:00557 NCBI chr 6:50,039,661...50,112,543
Ensembl chr 6:50,041,947...50,112,279 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00557 NCBI chr31:5,742,744...6,010,881
Ensembl chr31:5,742,744...6,093,612 		JBrowse link
G GCK glucokinase ISO SMPDB SMP:00557
G GPI glucose-6-phosphate isomerase ISO SMPDB SMP:00557 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G GUSB glucuronidase beta ISO SMPDB SMP:00557 NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424 		JBrowse link
G GYS2 glycogen synthase 2 ISO SMPDB SMP:00557 NCBI chr27:25,509,833...25,558,874
Ensembl chr27:25,509,655...25,558,844 		JBrowse link
G HK2 hexokinase 2 ISO SMPDB SMP:00557 NCBI chr17:48,287,367...48,329,470
Ensembl chr17:48,289,272...48,348,663 		JBrowse link
G MGAM maltase-glucoamylase ISO SMPDB SMP:00557 NCBI chr16:7,124,343...7,218,035
Ensembl chr16:7,125,114...7,260,241 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO SMPDB SMP:00557 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO SMPDB SMP:00557 NCBI chr21:23,918,588...23,973,607
Ensembl chr21:23,918,918...23,968,306 		JBrowse link
G PYGL glycogen phosphorylase L ISO SMPDB SMP:00557 NCBI chr 8:27,264,778...27,307,977
Ensembl chr 8:27,223,273...27,307,977 		JBrowse link
G SI sucrase-isomaltase ISO SMPDB SMP:00557 NCBI chr34:30,284,869...30,373,749
Ensembl chr34:30,284,858...30,373,780 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00557 NCBI chr 3:72,935,532...72,964,151
Ensembl chr 3:72,839,920...72,963,208 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00557 NCBI chr10:63,532,366...63,598,362
Ensembl chr10:63,533,171...63,597,452 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4052
    disease pathway 717
      congenital disease pathway 519
        inborn genetic disease pathway 519
          inborn error of metabolism pathway 519
            inborn error of carbohydrate metabolism pathway 122
              congenital sucrase-isomaltase deficiency pathway 14
paths to the root