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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:mitochondrial disease pathway
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Accession:PW:0001669 term browser browse the term
Definition:Those conditions resulting from impaired mitochondrial function and alterations in mitochondrial pathways and due to acquired or inherited mutations.


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carbamoyl phosphate synthetase I deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO SMPDB SMP:00002 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00002 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:00002 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100 		JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr16:69,631,581...69,654,869
Ensembl chr16:69,634,414...69,653,010 		JBrowse link
mitochondrial complex II deficiency pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO SMPDB SMP:00548 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00548 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00548 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00548 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00548 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00548 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00548 NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00548 NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00548 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00548 NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00548 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00548 NCBI chr14:81,150,021...81,217,479
Ensembl chr14:81,150,091...81,217,479 		JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00548 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00548 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00548 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00548 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00548 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00548 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00548 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00548 NCBI chr 4:105,308,236...105,337,595
Ensembl chr 4:105,308,039...105,337,600 		JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00548 NCBI chr 4:128,067,031...128,337,146
Ensembl chr 4:128,067,033...128,337,170 		JBrowse link
mitochondrial neurogastrointestinal encephalopathy syndrome pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak3 adenylate kinase 3 ISO SMPDB SMP:00202 NCBI chr 1:226,737,472...226,764,647
Ensembl chr 1:226,739,318...226,764,625 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00202 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00202 NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00202 NCBI chr 5:150,556,615...150,583,231
Ensembl chr 5:150,556,615...150,583,231 		JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00202 NCBI chr 6:43,073,706...43,085,183
Ensembl chr 6:43,073,796...43,085,183 		JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00202 NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180 		JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00202 NCBI chr16:44,066,952...44,098,654
Ensembl chr16:44,055,128...44,098,446 		JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00202 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00202 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00202 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231 		JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00202 NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771 		JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00202 NCBI chr 1:218,903,045...218,982,360
Ensembl chr 1:218,906,815...218,982,416 		JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00202 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00202 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00202 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00202 NCBI chr 6:41,339,858...41,346,774
Ensembl chr 6:41,340,557...41,346,773 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00202 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00202 NCBI chr10:103,034,755...103,046,125
Ensembl chr10:103,031,521...103,046,920 		JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00202 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00202 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536 		JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO SMPDB SMP:00202 NCBI chr 3:168,674,849...168,687,513
Ensembl chr 3:168,674,849...168,698,091 		JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00202 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00202 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590 		JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00202 NCBI chr 3:43,273,048...43,317,417
Ensembl chr 3:43,273,048...43,317,417 		JBrowse link
sarcosinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO SMPDB SMP:00244 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00244 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00244 NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521 		JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00244 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00244 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:00244 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00244 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00244 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00244 NCBI chr 2:24,912,600...24,987,533
Ensembl chr 2:24,912,578...24,987,528 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00244 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00244 NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00244 NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129 		JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00244 NCBI chr 7:110,595,126...110,601,474
Ensembl chr 7:110,595,091...110,601,473 		JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00244 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00244 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00244 NCBI chr 9:14,254,675...14,258,028
Ensembl chr 9:14,254,675...14,258,434 		JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00244 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00244 NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00244 NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00244 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074 		JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00244 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00244 NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277 		JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00244 NCBI chr12:36,083,226...36,090,540
Ensembl chr12:36,083,229...36,088,203 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00244 NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00244 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236 		JBrowse link
G Srr serine racemase ISO SMPDB SMP:00244 NCBI chr10:59,769,563...59,786,688
Ensembl chr10:59,769,571...59,787,011 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6092
    disease pathway 1954
      nutritional and metabolic disease pathway 709
        metabolic disease pathway 666
          mitochondrial disease pathway 83
            carbamoyl phosphate synthetase I deficiency pathway 13
            mitochondrial complex I deficiency pathway 0
            mitochondrial complex II deficiency pathway 21
            mitochondrial complex III deficiency pathway 0
            mitochondrial encephalomyopathy pathway + 24
            sarcosinemia pathway 26
paths to the root