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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 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162 		JBrowse link
G ASL argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr 7:59,908,648...59,948,822
Ensembl chr 7:73,142,842...73,157,472
Ensembl chr 7:73,142,842...73,157,472
Ensembl chr 7:73,142,842...73,157,472 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728 		JBrowse link
G GLS2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr12:32,426,264...32,443,690
Ensembl chr12:32,678,814...32,696,694 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr10:83,498,338...83,540,730 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378 		JBrowse link
G GPT glutamic--pyruvic transaminase ISO SMPDB SMP:00002 Ensembl chr 8:144,259,991...144,263,737 JBrowse link
G OTC ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819 		JBrowse link
G SLC1A4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615 		JBrowse link
G SLC1A5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr13:21,996,153...22,066,574
Ensembl chr13:40,589,689...40,608,994 		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 chr22:22,363,178...22,423,041
Ensembl chr22:40,450,276...40,510,200 		JBrowse link
G CS citrate synthase ISO SMPDB SMP:00548 NCBI chr12:32,614,982...32,643,719
Ensembl chr12:32,867,225...32,895,854 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00548 NCBI chr11:106,910,857...106,950,851
Ensembl chr11:110,756,001...110,792,795 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00548 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00548 NCBI chr14:55,433,358...55,455,876
Ensembl chr14:74,278,128...74,300,133 		JBrowse link
G FH fumarate hydratase ISO SMPDB SMP:00548 NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212 		JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00548 NCBI chr15:57,078,588...57,099,934
Ensembl chr15:76,043,311...76,064,634 		JBrowse link
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00548 NCBI chr20:2,766,598...2,772,571
Ensembl chr20:2,529,510...2,535,570 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00548 NCBI chr  X:143,336,460...143,345,274
Ensembl chr  X:153,222,309...153,231,135 		JBrowse link
G MDH2 malate dehydrogenase 2 ISO SMPDB SMP:00548 NCBI chr 7:67,953,759...67,973,270
Ensembl chr 7:82,497,800...82,516,526 		JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00548 NCBI chr 6:164,331,604...164,349,747 JBrowse link
G OGDH oxoglutarate dehydrogenase ISO SMPDB SMP:00548 NCBI chr 7:45,321,559...45,422,515
Ensembl chr 7:45,409,148...45,491,636 		JBrowse link
G PC pyruvate carboxylase ISO SMPDB SMP:00548 NCBI chr11:62,205,644...62,317,917
Ensembl chr11:65,527,662...65,551,396 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00548 NCBI chr  X:11,967,944...11,985,837
Ensembl chr  X:19,330,508...19,348,443 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00548 NCBI chr 3:58,359,753...58,366,094
Ensembl chr 3:59,776,618...59,782,411 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00548
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00548 NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO SMPDB SMP:00548 NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736 		JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00548 NCBI chr2A:84,476,814...84,512,920
Ensembl chr2A:86,035,723...86,066,622 		JBrowse link
G SUCLG2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00548 NCBI chr 3:67,277,348...67,563,181
Ensembl chr 3:68,647,738...68,931,891 		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 9:4,541,984...4,576,341
Ensembl chr 9:4,732,847...4,762,900 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00202 NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804 		JBrowse link
G CANT1 calcium activated nucleotidase 1 ISO SMPDB SMP:00202 NCBI chr17:73,068,196...73,086,900
Ensembl chr17:78,614,244...78,618,317 		JBrowse link
G CDA cytidine deaminase ISO SMPDB SMP:00202 NCBI chr 1:19,538,696...19,568,008
Ensembl chr 1:20,583,441...20,612,711 		JBrowse link
G CMPK2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00202 NCBI chr2A:6,856,242...6,874,567 JBrowse link
G CTPS1 CTP synthase 1 ISO SMPDB SMP:00202 NCBI chr 1:40,275,581...40,308,421
Ensembl chr 1:41,592,509...41,624,455 		JBrowse link
G DCTD dCMP deaminase ISO SMPDB SMP:00202 NCBI chr 4:175,079,416...175,106,756
Ensembl chr 4:187,303,591...187,330,527 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00202 NCBI chr16:52,977,879...52,994,496
Ensembl chr16:71,854,238...71,870,673 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO SMPDB SMP:00202 NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100 		JBrowse link
G DPYS dihydropyrimidinase ISO SMPDB SMP:00202 NCBI chr 8:101,008,090...101,096,234
Ensembl chr 8:103,160,922...103,248,303 		JBrowse link
G DUT deoxyuridine triphosphatase ISO SMPDB SMP:00202 NCBI chr15:27,280,025...27,292,003
Ensembl chr15:45,603,807...45,616,022 		JBrowse link
G GDA guanine deaminase ISO SMPDB SMP:00202 NCBI chr 9:52,559,752...52,662,886
Ensembl chr 9:70,891,319...70,994,574 		JBrowse link
G ITPA inosine triphosphatase ISO SMPDB SMP:00202 NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924 		JBrowse link
G LOC100995749 uridine phosphorylase 2 ISO SMPDB SMP:00202 NCBI chr2B:45,363,103...45,400,281
Ensembl chr2B:162,496,507...162,636,231 		JBrowse link
G NME6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00202 NCBI chr 3:48,206,365...48,217,618
Ensembl chr 3:49,290,069...49,299,831 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00202 NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513 		JBrowse link
G RRM2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00202 NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00202 NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056 		JBrowse link
G TK1 thymidine kinase 1 ISO SMPDB SMP:00202 NCBI chr17:72,251,416...72,265,308
Ensembl chr17:77,803,749...77,816,747 		JBrowse link
G TYMP thymidine phosphorylase ISO SMPDB SMP:00202 NCBI chr22:30,772,088...30,776,618 JBrowse link
G TYMS thymidylate synthetase ISO SMPDB SMP:00202 NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320 		JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 ISO SMPDB SMP:00202 Ensembl chr20:61,860,084...61,876,194 JBrowse link
G UMPS uridine monophosphate synthetase ISO SMPDB SMP:00202 NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029 		JBrowse link
G UPB1 beta-ureidopropionase 1 ISO SMPDB SMP:00202 NCBI chr22:5,300,686...5,332,735
Ensembl chr22:22,166,370...22,197,360 		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 chr2B:128,125,289...128,137,091
Ensembl chr2B:246,928,784...246,939,837 		JBrowse link
G ALAS1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00244 NCBI chr 3:52,140,423...52,156,656
Ensembl chr 3:53,369,522...53,385,361 		JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00244 NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471 		JBrowse link
G AMT aminomethyltransferase ISO SMPDB SMP:00244 NCBI chr 3:49,344,590...49,350,383
Ensembl chr 3:50,589,193...50,594,968 		JBrowse link
G BHMT betaine--homocysteine S-methyltransferase ISO SMPDB SMP:00244 NCBI chr 5:36,181,183...36,201,833
Ensembl chr 5:36,670,854...36,728,993 		JBrowse link
G CBS cystathionine beta-synthase ISO SMPDB SMP:00244 NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932 		JBrowse link
G CTH cystathionine gamma-lyase ISO SMPDB SMP:00244 NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666 		JBrowse link
G DLD dihydrolipoamide dehydrogenase ISO SMPDB SMP:00244 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629 		JBrowse link
G DMGDH dimethylglycine dehydrogenase ISO SMPDB SMP:00244 NCBI chr 5:36,241,341...36,313,995
Ensembl chr 5:36,732,005...36,805,883 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO SMPDB SMP:00244 Ensembl chr19:1,371,312...1,375,461 JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO SMPDB SMP:00244 NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582 		JBrowse link
G GATM glycine amidinotransferase ISO SMPDB SMP:00244 NCBI chr15:24,309,045...24,326,673
Ensembl chr15:42,639,597...42,657,209 		JBrowse link
G GCAT glycine C-acetyltransferase ISO SMPDB SMP:00244 NCBI chr22:18,722,886...18,731,963
Ensembl chr22:36,554,067...36,563,429 		JBrowse link
G GLDC glycine decarboxylase ISO SMPDB SMP:00244 NCBI chr 9:6,347,381...6,456,042
Ensembl chr 9:6,527,242...6,635,779 		JBrowse link
G GLYCTK glycerate kinase ISO SMPDB SMP:00244 NCBI chr 3:52,230,128...52,237,561
Ensembl chr 3:53,458,563...53,466,702 		JBrowse link
G GNMT glycine N-methyltransferase ISO SMPDB SMP:00244 NCBI chr 6:42,550,631...42,554,385
Ensembl chr 6:43,846,560...43,849,679 		JBrowse link
G LOC100993185 putative phosphoserine phosphatase-like protein ISO SMPDB SMP:00244 NCBI chr 7:56,351,434...56,376,714 JBrowse link
G MAOA monoamine oxidase A ISO SMPDB SMP:00244 NCBI chr  X:36,106,680...36,197,907
Ensembl chr  X:43,931,044...44,022,199 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO SMPDB SMP:00244 NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00244 NCBI chr 9:46,517,253...46,550,018
Ensembl chr 9:77,147,493...77,180,439 		JBrowse link
G SARDH sarcosine dehydrogenase ISO SMPDB SMP:00244 NCBI chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00244 NCBI chr 1:111,590,850...111,615,068
Ensembl chr 1:110,755,054...110,779,704 		JBrowse link
G SDS serine dehydratase ISO SMPDB SMP:00244 NCBI chr12:110,995,164...111,006,668
Ensembl chr12:114,377,650...114,388,839 		JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00244 NCBI chr17:32,870,949...32,905,690
Ensembl chr17:37,849,206...37,884,220 		JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00244 NCBI chr12:31,692,451...31,697,727
Ensembl chr12:31,944,785...31,950,138 		JBrowse link
G SRR serine racemase ISO SMPDB SMP:00244 NCBI chr17:2,294,440...2,316,244
Ensembl chr17:2,182,839...2,200,704 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 4069
    disease pathway 714
      nutritional and metabolic disease pathway 581
        metabolic disease pathway 542
          mitochondrial disease pathway 82
            carbamoyl phosphate synthetase I deficiency pathway 13
            mitochondrial complex I deficiency pathway 0
            mitochondrial complex II deficiency pathway 20
            mitochondrial complex III deficiency pathway 0
            mitochondrial encephalomyopathy pathway + 24
            sarcosinemia pathway 26
paths to the root