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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:galactosemia pathway
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Accession:PW:0002092 term browser browse the term
Definition:A galactosemia resulting from defects in the galactose-1-phosphate uridylyltransferase enzyme GALT.
Synonyms:exact_synonym: GALT deficiency pathway;   classic galactosemia pathway;   galactose-1-phosphate uridylyl transferase deficiency pathway
 related_synonym: Defective GALT can cause GALCT


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galactosemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B1 ISO SMPDB SMP:00182 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00182 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
G G6pc1 glucose-6-phosphatase catalytic subunit 1 ISO SMPDB SMP:00182 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Gaa alpha glucosidase ISO SMPDB SMP:00182 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Gale UDP-galactose-4-epimerase ISO SMPDB SMP:00182 NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388 		JBrowse link
G Galk1 galactokinase 1 ISO SMPDB SMP:00182 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00182 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gck glucokinase ISO SMPDB SMP:00182 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gla galactosidase, alpha ISO SMPDB SMP:00182 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Glb1 galactosidase, beta 1 ISO SMPDB SMP:00182 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Hk1 hexokinase 1 ISO SMPDB SMP:00182 NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Lct lactase ISO SMPDB SMP:00182 NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456 		JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00182 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728 		JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00182 NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      nervous system disease pathway 761
        brain disease pathway 350
          inborn error of brain metabolic pathway 319
            galactosemias pathway 16
              galactosemia pathway 14
Path 2
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      nutritional and metabolic disease pathway 709
        metabolic disease pathway 666
          inborn error of metabolism pathway 530
            inborn error of carbohydrate metabolism pathway 125
              galactosemias pathway 16
                galactosemia pathway 14
paths to the root