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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 2:219,788,234...219,843,189
Ensembl chr 2:219,788,234...219,842,986
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO SMPDB SMP:00557 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
G Gck glucokinase ISO SMPDB SMP:00557 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00557 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Gusb glucuronidase, beta ISO SMPDB SMP:00557 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Gys2 glycogen synthase 2 ISO SMPDB SMP:00557 NCBI chr 4:176,638,632...176,679,805
Ensembl chr 4:176,638,629...176,679,815
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00557 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Mgam maltase-glucoamylase ISO SMPDB SMP:00557 NCBI chr 4:69,018,592...69,114,027
Ensembl chr 4:68,849,033...68,996,961
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00557 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO SMPDB SMP:00557 NCBI chr 1:165,237,847...165,286,980
Ensembl chr 1:165,237,847...165,286,980
JBrowse link
G Pygl glycogen phosphorylase L ISO SMPDB SMP:00557 NCBI chr 6:92,597,759...92,643,734
Ensembl chr 6:92,597,706...92,643,847
JBrowse link
G Si sucrase-isomaltase ISO SMPDB SMP:00557 NCBI chr 2:170,220,794...170,301,348
Ensembl chr 2:170,221,245...170,301,348
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO SMPDB SMP:00557 NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00557 NCBI chr14:106,208,174...106,249,322
Ensembl chr14:106,208,176...106,248,539
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1953
      congenital disease pathway 528
        inborn genetic disease pathway 528
          inborn error of metabolism pathway 528
            inborn error of carbohydrate metabolism pathway 124
              congenital sucrase-isomaltase deficiency pathway 14
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.