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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 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Asl argininosuccinate lyase ISO SMPDB SMP:00002 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO SMPDB SMP:00002 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO SMPDB SMP:00002 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Gls2 glutaminase 2 ISO SMPDB SMP:00002 NCBI chr 7:2,605,679...2,621,853
Ensembl chr 7:2,605,719...2,621,852
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO SMPDB SMP:00002 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO SMPDB SMP:00002 NCBI chr19:9,587,637...9,613,323
Ensembl chr19:9,587,653...9,613,340
JBrowse link
G Gpt glutamic--pyruvic transaminase ISO SMPDB SMP:00002 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Otc ornithine transcarbamylase ISO SMPDB SMP:00002 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Slc1a4 solute carrier family 1 member 4 ISO SMPDB SMP:00002 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597
JBrowse link
G Slc1a5 solute carrier family 1 member 5 ISO SMPDB SMP:00002 NCBI chr 1:78,710,686...78,724,789
Ensembl chr 1:78,710,539...78,724,794
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO SMPDB SMP:00002 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
JBrowse link
G Slc25a15 solute carrier family 25 member 15 ISO SMPDB SMP:00002 NCBI chr16:74,505,318...74,554,523
Ensembl chr16:74,531,564...74,554,529
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 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Cs citrate synthase ISO SMPDB SMP:00548 NCBI chr 7:2,752,680...2,778,963
Ensembl chr 7:2,752,680...2,778,963
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO SMPDB SMP:00548 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00548 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Dlst dihydrolipoamide S-succinyltransferase ISO SMPDB SMP:00548 NCBI chr 6:108,936,534...108,961,322
Ensembl chr 6:108,936,664...108,959,803
JBrowse link
G Fh fumarate hydratase ISO SMPDB SMP:00548 NCBI chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377
JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO SMPDB SMP:00548 NCBI chr 8:59,164,601...59,183,899
Ensembl chr 8:59,164,572...59,183,908
JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO SMPDB SMP:00548 NCBI chr 3:122,808,564...122,813,638
Ensembl chr 3:122,808,564...122,813,583
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO SMPDB SMP:00548 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G Mdh2 malate dehydrogenase 2 ISO SMPDB SMP:00548 NCBI chr12:23,941,451...23,954,406
Ensembl chr12:23,941,448...23,954,431
JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO SMPDB SMP:00548 NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
JBrowse link
G Ogdh oxoglutarate dehydrogenase ISO SMPDB SMP:00548 NCBI chr14:86,414,924...86,481,903
Ensembl chr14:86,414,949...86,613,327
JBrowse link
G Pc pyruvate carboxylase ISO SMPDB SMP:00548 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO SMPDB SMP:00548 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO SMPDB SMP:00548 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO SMPDB SMP:00548 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO SMPDB SMP:00548 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO SMPDB SMP:00548 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO SMPDB SMP:00548 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO SMPDB SMP:00548 NCBI chr 4:101,181,315...101,210,692
Ensembl chr 4:101,180,404...101,210,746
JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO SMPDB SMP:00548 NCBI chr 4:127,552,100...127,824,970
Ensembl chr 4:127,552,101...127,824,970
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 1:247,144,486...247,169,690
Ensembl chr 1:247,144,491...247,169,693
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO SMPDB SMP:00202 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO SMPDB SMP:00202 NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
JBrowse link
G Cda cytidine deaminase ISO SMPDB SMP:00202 NCBI chr 5:156,703,579...156,734,541
Ensembl chr 5:156,703,579...156,734,541
Ensembl chr 5:156,703,579...156,734,541
JBrowse link
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO SMPDB SMP:00202 NCBI chr 6:45,683,242...45,694,824
Ensembl chr 6:45,683,234...45,694,822
JBrowse link
G Ctps1 CTP synthase 1 ISO SMPDB SMP:00202 NCBI chr 5:139,475,934...139,505,065
Ensembl chr 5:139,475,934...139,505,065
JBrowse link
G Dctd dCMP deaminase ISO SMPDB SMP:00202 NCBI chr16:47,177,144...47,222,850
Ensembl chr16:47,177,145...47,208,110
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO SMPDB SMP:00202 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO SMPDB SMP:00202 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Dpys dihydropyrimidinase ISO SMPDB SMP:00202 NCBI chr 7:78,769,918...78,847,941
Ensembl chr 7:78,769,807...78,847,974
JBrowse link
G Dut deoxyuridine triphosphatase ISO SMPDB SMP:00202 NCBI chr 3:117,514,399...117,525,450
Ensembl chr 3:117,514,444...117,525,446
JBrowse link
G Gda guanine deaminase ISO SMPDB SMP:00202 NCBI chr 1:238,982,542...239,057,663
Ensembl chr 1:238,982,392...239,057,732
JBrowse link
G Itpa inosine triphosphatase ISO SMPDB SMP:00202 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO SMPDB SMP:00202 NCBI chr 8:117,920,912...117,928,148
Ensembl chr 8:117,920,944...117,928,195
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO SMPDB SMP:00202 NCBI chr 1:266,652,966...266,782,935
Ensembl chr 1:266,659,519...266,782,910
JBrowse link
G Rrm2 ribonucleotide reductase regulatory subunit M2 ISO SMPDB SMP:00202 NCBI chr 6:43,884,627...43,890,818
Ensembl chr 6:43,884,678...43,889,515
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO SMPDB SMP:00202 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
G Tk1 thymidine kinase 1 ISO SMPDB SMP:00202 NCBI chr10:106,817,556...106,828,888
Ensembl chr10:106,817,601...106,828,884
JBrowse link
G Tymp thymidine phosphorylase ISO SMPDB SMP:00202 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
G Tyms thymidylate synthetase ISO SMPDB SMP:00202 NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
JBrowse link
G Uckl1 uridine-cytidine kinase 1-like 1 ISO SMPDB SMP:00202 NCBI chr 3:177,066,022...177,078,611
Ensembl chr 3:177,066,014...177,078,594
JBrowse link
G Umps uridine monophosphate synthetase ISO SMPDB SMP:00202 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO SMPDB SMP:00202 NCBI chr20:14,167,383...14,193,724
Ensembl chr20:14,167,586...14,193,690
JBrowse link
G Upp2 uridine phosphorylase 2 ISO SMPDB SMP:00202 NCBI chr 3:44,806,106...44,846,464
Ensembl chr 3:44,806,106...44,846,464
JBrowse link
sarcosinemia pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO SMPDB SMP:00244 NCBI chr 9:100,281,339...100,291,292
Ensembl chr 9:100,281,339...100,291,291
JBrowse link
G Alas1 5'-aminolevulinate synthase 1 ISO SMPDB SMP:00244 NCBI chr 8:114,927,704...114,941,038
Ensembl chr 8:114,927,722...114,940,177
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO SMPDB SMP:00244 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Amt aminomethyltransferase ISO SMPDB SMP:00244 NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
JBrowse link
G Bhmt betaine-homocysteine S-methyltransferase ISO SMPDB SMP:00244 NCBI chr 2:23,236,573...23,256,158
Ensembl chr 2:23,236,575...23,256,158
JBrowse link
G Cbs cystathionine beta synthase ISO SMPDB SMP:00244 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cth cystathionine gamma-lyase ISO SMPDB SMP:00244 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO SMPDB SMP:00244 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Dmgdh dimethylglycine dehydrogenase ISO SMPDB SMP:00244 NCBI chr 2:23,289,376...23,370,360
Ensembl chr 2:23,289,374...23,370,477
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO SMPDB SMP:00244 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Gars glycyl-tRNA synthetase ISO SMPDB SMP:00244 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Gatm glycine amidinotransferase ISO SMPDB SMP:00244 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Gcat glycine C-acetyltransferase ISO SMPDB SMP:00244 NCBI chr 7:120,263,068...120,269,365
Ensembl chr 7:120,263,054...120,269,451
JBrowse link
G Gldc glycine decarboxylase ISO SMPDB SMP:00244 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Glyctk glycerate kinase ISO SMPDB SMP:00244 NCBI chr 8:114,846,210...114,853,374
Ensembl chr 8:114,848,084...114,853,103
JBrowse link
G Gnmt glycine N-methyltransferase ISO SMPDB SMP:00244 NCBI chr 9:16,565,274...16,568,626
Ensembl chr 9:16,565,225...16,568,627
JBrowse link
G Maoa monoamine oxidase A ISO SMPDB SMP:00244 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO SMPDB SMP:00244 NCBI chr 2:200,484,245...200,513,564
Ensembl chr 2:200,484,246...200,513,564
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO SMPDB SMP:00244 NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
JBrowse link
G Psph phosphoserine phosphatase ISO SMPDB SMP:00244 NCBI chr12:30,514,128...30,526,551
Ensembl chr12:30,514,112...30,526,557
JBrowse link
G Sardh sarcosine dehydrogenase ISO SMPDB SMP:00244 NCBI chr 3:5,737,203...5,802,153
Ensembl chr 3:5,737,200...5,802,129
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO SMPDB SMP:00244 NCBI chr 2:211,219,743...211,235,475
Ensembl chr 2:211,219,750...211,235,467
JBrowse link
G Sds serine dehydratase ISO SMPDB SMP:00244 NCBI chr12:41,620,429...41,627,741
Ensembl chr12:41,620,393...41,627,741
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO SMPDB SMP:00244 NCBI chr10:47,030,813...47,059,216
Ensembl chr10:47,031,050...47,059,216
JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO SMPDB SMP:00244 NCBI chr 7:70,824,718...70,829,822
Ensembl chr 7:70,824,715...70,829,815
JBrowse link
G Srr serine racemase ISO SMPDB SMP:00244 NCBI chr10:61,756,138...61,772,327
Ensembl chr10:61,756,138...61,772,293
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6103
    disease pathway 1957
      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