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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:methylenetetrahydrofolate reductase deficiency pathway
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Accession:PW:0002343 term browser browse the term
Definition:A rather common condition resulting from alterations in folate metabolism and due to defects in methylenetetrahydrofolate reductase (MTHFR) gene.
Synonyms:related_synonym: SMP:00340


show annotations for term's descendants           Sort by:
methylenetetrahydrofolate reductase deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahcy adenosylhomocysteinase ISO SMPDB SMP:00340 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Amd1 adenosylmethionine decarboxylase 1 ISO SMPDB SMP:00340 NCBI chr20:43,695,783...43,711,476
Ensembl chr20:43,697,237...43,711,476 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00340 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00340 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Chdh choline dehydrogenase ISO SMPDB SMP:00340 NCBI chr16:5,194,269...5,225,541
Ensembl chr16:5,194,269...5,225,537 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00340 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO SMPDB SMP:00340 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Il4i1 interleukin 4 induced 1 ISO SMPDB SMP:00340 NCBI chr 1:95,299,457...95,324,564
Ensembl chr 1:95,295,601...95,324,562 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO SMPDB SMP:00340 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO SMPDB SMP:00340 NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
G Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit ISO SMPDB SMP:00340 NCBI chr10:25,106,928...25,122,982
Ensembl chr10:25,106,930...25,122,777 		JBrowse link
G Msrb2 methionine sulfoxide reductase B2 ISO SMPDB SMP:00340 NCBI chr17:81,974,378...82,000,044
Ensembl chr17:81,974,196...82,000,043 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO SMPDB SMP:00340 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO SMPDB SMP:00340 NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO SMPDB SMP:00340 NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO SMPDB SMP:00340 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO SMPDB SMP:00340 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00340 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Srm spermidine synthase ISO SMPDB SMP:00340 NCBI chr 5:159,025,875...159,029,076
Ensembl chr 5:159,025,873...159,029,405 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      musculoskeletal disease pathway 171
        muscular disease pathway 19
          muscle spasticity disorder pathway 19
            methylenetetrahydrofolate reductase deficiency pathway 19
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 amino acid metabolism pathway 229
              hyperhomocysteinemia pathway 19
                homocystinuria pathway 19
                  methylenetetrahydrofolate reductase deficiency pathway 19
paths to the root