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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:guanidinoacetate methyltransferase deficiency pathway
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Accession:PW:0002215 term browser browse the term
Definition:An autosomal recessive condition resulting from alterations in creatine metabolism due to mutations in the GAMT gene.
Synonyms:related_synonym: GAMT deficiency pathway;   SMP:00188;   SMP:00504;   creatine deficiency syndrome pathway due to GMAT deficiency


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guanidinoacetate methyltransferase 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:00188 SMP:00504 NCBI chr 5:157,163,189...157,188,673
Ensembl chr 5:157,162,945...157,188,673 		JBrowse link
G Arg1 arginase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chr 1:22,295,093...22,307,720
Ensembl chr 1:22,295,322...22,307,713 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00188 SMP:00504 NCBI chr12:32,295,779...32,313,257
Ensembl chr12:32,295,633...32,317,261 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chr 3:35,144,765...35,194,632
Ensembl chr 3:35,144,999...35,194,627 		JBrowse link
G Ckb creatine kinase B ISO SMPDB SMP:00188 SMP:00504 NCBI chr 6:136,550,583...136,553,464
Ensembl chr 6:136,549,844...136,553,478 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chr 9:76,063,863...76,186,739
Ensembl chr 9:76,000,754...76,186,734 		JBrowse link
G Dao D-amino-acid oxidase ISO SMPDB SMP:00188 SMP:00504 NCBI chr12:48,252,900...48,275,964
Ensembl chr12:48,252,902...48,273,300 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chr13:99,431,955...99,503,510
Ensembl chr13:99,433,130...99,503,509 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00188 SMP:00504 NCBI chr 7:10,099,267...10,102,083
Ensembl chr 7:10,098,571...10,102,083 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00188 SMP:00504 NCBI chr 3:130,112,508...130,137,664
Ensembl chr 3:130,112,509...130,129,355 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chr16:9,646,569...9,680,215
Ensembl chr16:9,646,509...9,680,210 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chr 1:252,306,541...252,337,622
Ensembl chr 1:252,284,434...252,329,871 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO SMPDB SMP:00188 SMP:00504 NCBI chr12:44,276,011...44,456,371
Ensembl chr12:44,287,614...44,371,837 		JBrowse link
G Oat ornithine aminotransferase ISO SMPDB SMP:00188 SMP:00504 NCBI chr 1:196,777,973...196,797,754
Ensembl chr 1:196,777,975...196,797,754 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00188 SMP:00504 NCBI chr  X:15,126,358...15,202,473
Ensembl chr  X:15,126,358...15,239,555 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO SMPDB SMP:00188 SMP:00504 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:164,040,864...164,076,435 		JBrowse link
G Prodh proline dehydrogenase ISO SMPDB SMP:00188 SMP:00504 NCBI chr11:96,414,275...96,431,604
Ensembl chr11:96,414,224...96,433,418 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO SMPDB SMP:00188 SMP:00504 NCBI chr13:95,158,236...95,162,030
Ensembl chr13:95,158,183...95,162,029 		JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO SMPDB SMP:00188 SMP:00504 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:53,977,866...54,029,691 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00188 SMP:00504 NCBI chr16:76,334,037...76,357,325
Ensembl chr16:76,324,288...76,357,321 		JBrowse link
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  pathway 6091
    disease pathway 1954
      nervous system disease pathway 761
        movement disorder pathway 82
          guanidinoacetate methyltransferase deficiency pathway 20
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