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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:phosphoenolpyruvate carboxykinase deficiency pathway
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Accession:PW:0002617 term browser browse the term
Definition:A condition resulting from alterations in the gluconeogenesis pathway due to defects in the cytosolic PCK1 gene.
Synonyms:exact_synonym: PCK deficiency pathway;   PCK1 deficiency pathway;   PEPCK deficiency pathway
 related_synonym: SMP:00560;   phosphoenolpyruvate carboxykinase deficiency 1 pathway


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phosphoenolpyruvate carboxykinase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO SMPDB SMP:00560 NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO SMPDB SMP:00560 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
G Bpgm bisphosphoglycerate mutase ISO SMPDB SMP:00560 NCBI chr 4:61,912,210...61,940,697
Ensembl chr 4:61,912,210...61,940,696
JBrowse link
G Eno1 enolase 1 ISO SMPDB SMP:00560 NCBI chr 5:167,288,223...167,299,610
Ensembl chr 5:167,288,223...167,299,609
JBrowse link
G Fbp1 fructose-bisphosphatase 1 ISO SMPDB SMP:00560 NCBI chr17:396,175...417,480
Ensembl chr17:396,180...417,480
JBrowse link
G G6pc glucose-6-phosphatase, catalytic subunit ISO SMPDB SMP:00560 NCBI chr10:89,286,009...89,296,213
Ensembl chr10:89,285,855...89,296,213
JBrowse link
G Galm galactose mutarotase ISO SMPDB SMP:00560 NCBI chr 6:2,808,988...2,860,742
Ensembl chr 6:2,808,841...2,860,744
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO SMPDB SMP:00560 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO SMPDB SMP:00560 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Hk2 hexokinase 2 ISO SMPDB SMP:00560 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00560 NCBI chr12:23,941,451...23,954,406
Ensembl chr12:23,941,448...23,954,431
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00560 NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
JBrowse link
G Pank1 pantothenate kinase 1 ISO SMPDB SMP:00560 NCBI chr 1:253,115,400...253,189,643
Ensembl chr 1:253,119,112...253,185,533
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00560 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1 ISO SMPDB SMP:00560 NCBI chr 3:171,213,936...171,219,885
Ensembl chr 3:171,213,936...171,219,871
JBrowse link
G Pgam1 phosphoglycerate mutase 1 ISO SMPDB SMP:00560 NCBI chr 1:261,158,204...261,165,814
Ensembl chr 1:261,158,261...261,165,808
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO SMPDB SMP:00560 NCBI chr14:86,045,005...86,047,116
Ensembl chr14:86,044,969...86,047,162
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO SMPDB SMP:00560 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO SMPDB SMP:00560 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO SMPDB SMP:00560 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO SMPDB SMP:00560 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO SMPDB SMP:00560 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1953
      digestive system disease pathway 89
        liver disease pathway 53
          phosphoenolpyruvate carboxykinase deficiency pathway 22
Path 2
Term Annotations click to browse term
  pathway 6103
    disease pathway 1953
      nutritional and metabolic disease pathway 706
        metabolic disease pathway 665
          inborn error of metabolism pathway 528
            inborn error of carbohydrate metabolism pathway 124
              phosphoenolpyruvate carboxykinase deficiency pathway 22
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