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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 (https://rgd.mcw.edu/rgdweb/contact/contactus.html).
Term:AGAT deficiency pathway
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Accession:PW:0002359 term browser browse the term
Definition:An autosomal recessive condition characterized by developmental delay and mental retardation due to defects in the GATM gene.
Synonyms:exact_synonym: arginine:glycine amidinotransferase deficiency pathway
 related_synonym: SMP:00362;   SMP:00507


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AGAT deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345 		JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:22,295,093...22,307,720
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00362 SMP:00507 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:42,592,342...42,613,046
Ensembl chr12:42,592,343...42,612,741 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00362 SMP:00507 NCBI chr12:44,276,011...44,456,371
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00362 SMP:00507 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00362 SMP:00507 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775 		JBrowse link
G Prodh proline dehydrogenase ISO SMPDB SMP:00362 SMP:00507 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00362 SMP:00507 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00362 SMP:00507 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00362 SMP:00507 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6091
    disease pathway 1954
      neuropsychiatric disease pathway 25
        neurodevelopmental disorder pathway 20
          AGAT deficiency pathway 20
Path 2
Term Annotations click to browse term
  pathway 6091
    disease pathway 1954
      nutritional and metabolic disease pathway 709
        metabolic disease pathway 666
          inborn error of metabolism pathway 530
            inborn error of amino acid metabolism pathway 229
              AGAT deficiency pathway 20
paths to the root