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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:metabolic acidosis
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Accession:DOID:0050758 term browser browse the term
Definition:An acquired metabolic disease that characterized by excessive production of acid. (DO)
Synonyms:exact_synonym: metabolic acidoses


show annotations for term's descendants           Sort by:
metabolic acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car1 carbonic anhydrase 1 ISO ClinVar Annotator: match by term: Metabolic acidosis ClinVar PMID:25741868 NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208 		JBrowse link
G Dab2 DAB adaptor protein 2 IEP protein:decreased expression:brush border membrane RGD PMID:22357915 RGD:7243154 NCBI chr 2:55,514,692...55,567,476
Ensembl chr 2:55,514,700...55,567,476 		JBrowse link
G Edn1 endothelin 1 treatment IDA RGD PMID:17255858 RGD:1625312 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Metabolic acidosis ClinVar PMID:25741868 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 IMP compared to SS/JrHsdMcwi RGD PMID:30605394 RGD:38500203 NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702 		JBrowse link
G Kcnj16em1Mcwi potassium inwardly-rectifying channel, subfamily J, member 16; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP compared to SS/JrHsdMcwi RGD PMID:30605394 RGD:38500203
G Myh9 myosin, heavy chain 9 IEP protein:increased expression:brush border membrane RGD PMID:22357915 RGD:7243154 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Rhcg Rh family, C glycoprotein IEP protein:increased expression:medulla, kidney collecting duct intercalated cell RGD PMID:16144966 RGD:8554685 NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876 		JBrowse link
G Slc38a3 solute carrier family 38, member 3 treatment IEP RGD PMID:16954343 RGD:9999224 NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP protein:increased expression:renal cortex, renal medulla (rat) RGD PMID:19439519 RGD:7242944 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps16 mitochondrial ribosomal protein S16 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 | ClinVar Annotator: match by term: MRPS16-related condition		 OMIM
CTD
ClinVar		 PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 NCBI chr15:3,918,621...3,921,024
Ensembl chr15:3,918,615...3,921,656 		JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ClinVar PMID:25741868 NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | ClinVar Annotator: match by term: TSFM-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 More... NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769 		JBrowse link
Congenital Infantile Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:28492532 PMID:32581362 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:25293719 PMID:25741868 NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540 		JBrowse link
G Ppp1r12b protein phosphatase 1, regulatory subunit 12B ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar NCBI chr13:46,199,418...46,397,108
Ensembl chr13:46,201,251...46,397,108 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:25293719 PMID:25741868 NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458 		JBrowse link
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 More... NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to ClinVar PMID:8968745 PMID:9934985 PMID:28492532 NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772 		JBrowse link
diabetic ketoacidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp2 aquaporin 2 ISO RGD PMID:12021537 RGD:2314345 NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11430560 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Insr insulin receptor ISO RGD PMID:15254588 RGD:1302526 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Pax4 paired box 4 susceptibility ISO ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone | ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to ClinVar
OMIM		 PMID:9536098 PMID:15509590 PMID:17576681 PMID:18414213 PMID:25741868 More... NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408 		JBrowse link
G Serpina7 serpin family A member 7 ISO protein:decreased expression:serum RGD PMID:6768790 RGD:2312332 NCBI chr  X:102,663,242...102,722,319
Ensembl chr  X:102,663,405...102,669,040 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO
ISS		 ClinVar Annotator: match by term: GRACILE syndrome
OMIM:603358
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia | ClinVar Annotator: match by term: LARS2-related condition OMIM
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395 		JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb2 amyloid beta precursor protein binding family B member 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,557,918...41,878,622
Ensembl chr14:41,557,972...41,877,495 		JBrowse link
G Chrna9 cholinergic receptor nicotinic alpha 9 subunit ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,235,218...42,241,939
Ensembl chr14:42,235,226...42,242,192 		JBrowse link
G Fam114a1 family with sequence similarity 114, member A1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,275,693...43,346,154
Ensembl chr14:43,275,701...43,346,174 		JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799 		JBrowse link
G Klhl5 kelch-like family member 5 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,144,254...43,206,192
Ensembl chr14:43,144,257...43,184,238 		JBrowse link
G Lias lipoic acid synthetase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: LIAS-related condition | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency OMIM
ClinVar		 PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783 		JBrowse link
G Limch1 LIM and calponin homology domains 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,112,579...41,425,001
Ensembl chr14:41,114,803...41,425,191 		JBrowse link
G N4bp2 NEDD4 binding protein 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,342,690...42,479,861
Ensembl chr14:42,409,510...42,483,960 		JBrowse link
G Nsun7 NOP2/Sun RNA methyltransferase family member 7 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,878,562...41,935,238
Ensembl chr14:41,879,293...41,934,949 		JBrowse link
G Pds5a PDS5 cohesin associated factor A ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,551,653...42,651,074
Ensembl chr14:42,552,647...42,648,669 		JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
G Rbm47 RNA binding motif protein 47 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,053,290...42,191,572
Ensembl chr14:42,154,142...42,189,431 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370 		JBrowse link
G Rhoh ras homolog family member H ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369 		JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:42,893,945...42,897,140
Ensembl chr14:42,893,942...42,897,136
Ensembl chr 3:42,893,942...42,897,136
Ensembl chr 1:42,893,942...42,897,136 		JBrowse link
G Smim14 small integral membrane protein 14 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,783,361...42,829,762
Ensembl chr14:42,783,332...42,829,760 		JBrowse link
G Tlr1 toll-like receptor 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125 		JBrowse link
G Tlr10 toll-like receptor 10 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,400,843...43,414,056
Ensembl chr14:43,406,217...43,413,917 		JBrowse link
G Tlr6 toll-like receptor 6 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685 		JBrowse link
G Tmem156 transmembrane protein 156 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,221,464...43,252,453
Ensembl chr14:43,223,381...43,252,449 		JBrowse link
G Ube2k ubiquitin-conjugating enzyme E2K ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:42,658,016...42,718,899
Ensembl chr14:42,658,016...42,718,630 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590 		JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
lactic acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoo apolipoprotein O ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar NCBI chr  X:59,157,971...59,262,940
Ensembl chr  X:59,158,049...59,262,940 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:24954817 PMID:25741868 PMID:34483339 PMID:34954817 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794 		JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Seizures and lactic acidosis ClinVar PMID:8739943 PMID:12915481 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Seizures and lactic acidosis ClinVar PMID:8739943 PMID:12915481 NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISS MouseDO NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:25741868 PMID:32722639 NCBI chr16:19,526,633...19,533,567
Ensembl chr16:19,526,565...19,535,726
Ensembl chr 7:19,526,565...19,535,726 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:25741868 PMID:33093004 NCBI chr 2:45,951,327...46,061,829
Ensembl chr 2:45,951,313...46,061,846 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2537010 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:25331496 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Pygl glycogen phosphorylase L IAGP DNA:mutation:multiple RGD PMID:17705025 RGD:11071447 NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:31883641 NCBI chr17:33,977,908...33,982,478
Ensembl chr17:33,977,921...33,982,479 		JBrowse link
mitochondrial DNA depletion syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | ClinVar Annotator: match by term: SUCLG1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17287286 PMID:17576681 PMID:17668387 More... 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 ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 ClinVar NCBI chr 4:128,067,031...128,337,146
Ensembl chr 4:128,067,033...128,337,170 		JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla8 patatin-like phospholipase domain containing 8 ISO ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis | ClinVar Annotator: match by term: PNPLA8-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 More... NCBI chr 6:61,329,810...61,391,736
Ensembl chr 6:61,329,810...61,391,734 		JBrowse link
mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: MPC1-related condition | ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency OMIM
ClinVar		 PMID:12649063 PMID:22628558 PMID:25741868 PMID:28492532 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400 		JBrowse link
Myopathy with Lactic Acidosis, Hereditary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iscu iron-sulfur cluster assembly enzyme ISO ClinVar Annotator: match by term: ISCU-related condition | ClinVar Annotator: match by term: Myopathy with lactic acidosis, hereditary
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18296749 PMID:18304497 PMID:19567699 PMID:19846308 PMID:20206689 More... NCBI chr12:42,852,305...42,858,150
Ensembl chr12:42,852,305...42,858,150 		JBrowse link
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:35,257,228...35,328,883
Ensembl chr  X:35,263,576...35,328,816 		JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:33,401,122...33,465,427 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:34,713,150...34,859,054
Ensembl chr  X:34,713,175...34,858,807 		JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:35,372,453...35,488,073
Ensembl chr  X:35,372,700...35,488,091 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:32,553,300...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 More... NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:89,372,248...89,431,779
Ensembl chr 3:89,371,497...89,431,773 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466 		JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:33,994,503...34,151,704
Ensembl chr  X:34,021,350...34,151,701 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:32,948,656...33,011,222
Ensembl chr  X:32,948,656...33,011,264 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:32,893,100...32,912,686
Ensembl chr  X:32,894,327...32,911,366 		JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742 		JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747 		JBrowse link
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261 		JBrowse link
G Bco2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,882,174...50,907,676
Ensembl chr 8:50,882,181...50,915,467 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796 		JBrowse link
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16049940 PMID:16199547 PMID:17576681 PMID:20022530 More... NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
Ensembl chr 1:50,978,051...51,004,479 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308 		JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533 		JBrowse link
G Il18 interleukin 18 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330 		JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327 		JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802 		JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:9536098 PMID:16049940 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656 		JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819 		JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855 		JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485 		JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415 		JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,908,161...50,913,202
Ensembl chr 8:50,909,052...50,913,217 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729 		JBrowse link
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apip APAF1 interacting protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar PMID:25741868 NCBI chr 3:89,431,964...89,458,000
Ensembl chr 3:89,432,037...89,458,340 		JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: PDHX-related condition | ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 More... NCBI chr 3:89,372,248...89,431,779
Ensembl chr 3:89,371,497...89,431,773 		JBrowse link
Pyruvate Dehydrogenase Phosphatase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500 		JBrowse link
G Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PDP1-related condition | ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency		 OMIM
CTD
ClinVar		 PMID:15855260 PMID:19184109 PMID:25741868 PMID:28492532 PMID:31392110 NCBI chr 5:25,446,843...25,455,107
Ensembl chr 5:25,446,272...25,455,217 		JBrowse link
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a42 solute carrier family 25, member 42 ISO ClinVar Annotator: match by term: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | ClinVar Annotator: match by term: SLC25A42-related condition OMIM
ClinVar		 PMID:25741868 PMID:26541337 PMID:28492532 PMID:29327420 PMID:29923093 More... NCBI chr16:19,213,914...19,251,990
Ensembl chr16:19,213,950...19,237,025 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        acquired metabolic disease 2538
          metabolic acidosis 115
            Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression 1
            alcoholic ketoacidosis 0
            diabetic ketoacidosis 5
            lactic acidosis + 98
Path 2
Term Annotations click to browse term
  disease 19137
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        Acid-Base Imbalance 159
          Acidoses 148
            metabolic acidosis 115
              Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression 1
              alcoholic ketoacidosis 0
              diabetic ketoacidosis 5
              lactic acidosis + 98
paths to the root