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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:Glut1 deficiency syndrome pathway
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Accession:PW:0002467 term browser browse the term
Definition:A hereditary, usually autosomal dominant condition, resulting from alterations in glucose transport, affecting the nervous system and exhibiting a wide phenotypic variability.
Synonyms:related_synonym: SMP:00580


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Glut1 deficiency syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt1 beta-1,4-galactosyltransferase 1 ISO SMPDB SMP:00580 NCBI chr 5:57,121,768...57,168,610
Ensembl chr 5:57,121,769...57,168,610
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00580 NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
JBrowse link
G Cmpk1 cytidine/uridine monophosphate kinase 1 ISO SMPDB SMP:00580 NCBI chr 5:133,759,722...133,786,452
Ensembl chr 5:133,759,735...133,786,452
JBrowse link
G G6pc glucose-6-phosphatase, catalytic subunit ISO SMPDB SMP:00580 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO SMPDB SMP:00580 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
JBrowse link
G Lalba lactalbumin, alpha ISO SMPDB SMP:00580 NCBI chr 7:140,088,420...140,096,347
Ensembl chr 7:140,088,421...140,090,922
JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO SMPDB SMP:00580 NCBI chr10:81,648,216...81,653,717
Ensembl chr10:81,648,216...81,653,717
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO SMPDB SMP:00580 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
JBrowse link
G Ugp2 UDP-glucose pyrophosphorylase 2 ISO SMPDB SMP:00580 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
              Glut1 deficiency syndrome pathway 9
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.