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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:pyruvate decarboxylase deficiency
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Accession:DOID:3649 term browser browse the term
Definition:A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. (DO)
Synonyms:exact_synonym: Ataxia with Lactic Acidosis I;   Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease;   Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease;   PDH Deficiency;   PDHAD;   PDHC Deficiency;   PDHC Deficiency Disease;   ataxia with lactic acidosis;   deficiency of pyruvic dehydrogenase;   intermittent ataxia with abnormal pyruvate metabolism;   intermittent ataxia with pyruvate dehydrogenase deficiency;   intermittent ataxia with pyruvate dehydrogenase, or decarboxylase deficiency;   pyruvate dehydrogenase complex deficiency;   pyruvate dehydrogenase complex deficiency disease;   pyruvate dehydrogenase deficiency;   type I ataxia with lactic acidosis
 narrow_synonym: LACTIC ACIDEMIA, THIAMINE-RESPONSIVE
 primary_id: MESH:D015325
 alt_id: MIM:312170;   OMIA:001406
 xref: EFO:0007459;   GARD:4620;   GARD:7513;   ICD10CM:E74.4;   MIM:PS312170;   NCI:C103968;   ORDO:79243
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
pyruvate decarboxylase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:53,619,631...53,652,354 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:26968897 NCBI chr10:13,978,975...13,999,646
Ensembl chr10:13,978,990...13,990,506 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:53,563,073...53,630,760 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency ClinVar PMID:25741868 NCBI chr  X:38,522,143...38,667,746
Ensembl chr  X:38,521,183...38,667,676 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO
IMP 		DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency
DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:1293379 PMID:1301207 PMID:1338114 PMID:1779625 PMID:1909778 More... RGD:731230, RGD:13207454, RGD:13207453 NCBI chr  X:38,509,158...38,522,986
Ensembl chr  X:38,509,084...38,522,536 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9536098 PMID:15138885 PMID:17576681 PMID:25741868 PMID:28492532 More... RGD:1599115 NCBI chr15:19,182,789...19,188,731
Ensembl chr15:19,181,208...19,188,976 		JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:109,826,579...109,886,869
Ensembl chr 3:109,827,209...109,886,905 		JBrowse link
G Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO Pyruvate dehydrogenase deficiency OMIA PMID:516334 PMID:552740 PMID:7361423 PMID:15049576 PMID:17095275 NCBI chr 5:30,245,699...30,252,494
Ensembl chr 5:30,242,704...30,253,960 		JBrowse link
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:32,977,023...32,981,442
Ensembl chr15:32,977,035...32,981,442 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 		OMIM
CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:32,997,853...33,006,691
Ensembl chr15:32,997,834...33,016,864 		JBrowse link
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name 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:38,106,067...38,231,286
Ensembl chr  X:38,106,067...38,231,331 		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:39,065,842...39,137,521
Ensembl chr  X:39,072,840...39,137,448 		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:36,997,518...37,093,363
Ensembl chr  X:36,999,265...37,089,782 		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:37,566,320...37,796,766
Ensembl chr  X:37,566,378...37,796,760 		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:39,307,320...39,322,023
Ensembl chr  X:39,307,137...39,322,021 		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:38,522,143...38,667,746
Ensembl chr  X:38,521,183...38,667,676 		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:39,181,091...39,296,814
Ensembl chr  X:39,181,091...39,296,695 		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:36,185,067...36,524,711
Ensembl chr  X:36,438,178...36,524,708 		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:38,509,158...38,522,986
Ensembl chr  X:38,509,084...38,522,536 		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 3:109,826,579...109,886,869
Ensembl chr 3:109,827,209...109,886,905 		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:37,979,629...38,102,656
Ensembl chr  X:37,979,629...38,102,144 		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:37,803,204...37,960,378
Ensembl chr  X:37,830,055...37,960,375 		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:36,580,406...36,642,943
Ensembl chr  X:36,573,917...36,643,240 		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:39,325,926...39,432,017
Ensembl chr  X:39,325,926...39,433,678 		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:37,771,135...37,800,894
Ensembl chr  X:37,771,135...37,800,894 		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:36,526,068...36,543,336
Ensembl chr  X:36,526,068...36,544,450 		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:37,331,893...37,486,465
Ensembl chr  X:37,334,841...37,439,276 		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:38,686,530...39,031,658
Ensembl chr  X:38,686,530...39,031,393 		JBrowse link
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd6 abhydrolase domain containing 6, acylglycerol lipase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:19,289,967...19,337,500
Ensembl chr15:19,289,969...19,337,193 		JBrowse link
G Acox2 acyl-CoA oxidase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:19,090,820...19,122,392
Ensembl chr15:19,090,926...19,122,392 		JBrowse link
G Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:2,125,234...2,173,457
Ensembl chr16:2,125,234...2,173,421 		JBrowse link
G Arf4 ARF GTPase 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,903,238...1,920,012
Ensembl chr16:1,903,371...1,920,011 		JBrowse link
G Asb14 ankyrin repeat and SOCS box-containing 14 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:2,102,303...2,131,379
Ensembl chr16:2,102,363...2,130,590 		JBrowse link
G Dennd6a DENN domain containing 6A ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,843,803...1,892,165
Ensembl chr16:1,843,752...1,892,163 		JBrowse link
G Dnah12 dynein, axonemal, heavy chain 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,932,776...2,099,391
Ensembl chr16:1,944,752...2,099,373 		JBrowse link
G Dnase1l3 deoxyribonuclease 1L3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:19,351,683...19,378,536
Ensembl chr15:19,352,493...19,378,531 		JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:19,392,212...19,525,278
Ensembl chr15:19,392,216...19,525,209 		JBrowse link
G Hesx1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:2,198,589...2,200,694
Ensembl chr16:2,198,589...2,200,694 		JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:2,235,172...2,489,827
Ensembl chr16:2,235,169...2,301,850 		JBrowse link
G Kctd6 potassium channel tetramerization domain containing 6 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:19,125,529...19,142,038
Ensembl chr15:19,124,932...19,134,583 		JBrowse link
G Pde12 phosphodiesterase 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,926,807...1,932,383
Ensembl chr16:1,922,131...1,932,611 		JBrowse link
G Pdhb pyruvate dehydrogenase E1 subunit beta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:15138885 PMID:16199547 PMID:17576681 PMID:18164639 More... NCBI chr15:19,182,789...19,188,731
Ensembl chr15:19,181,208...19,188,976 		JBrowse link
G Pxk PX domain containing serine/threonine kinase like ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:19,190,085...19,258,711
Ensembl chr15:19,190,085...19,258,671 		JBrowse link
G Rpp14 ribonuclease P/MRP subunit p14 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr15:19,268,025...19,278,216
Ensembl chr15:19,266,834...19,282,122 		JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar PMID:28492532 NCBI chr16:1,673,964...1,791,902
Ensembl chr16:1,673,964...1,791,902 		JBrowse link
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name 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 8:60,013,429...60,085,159
Ensembl chr 8:60,009,618...60,085,054 		JBrowse link
G Bco2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,778,571...59,803,597
Ensembl chr 8:59,778,575...59,799,168 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,307,090...60,322,167
Ensembl chr 8:60,317,121...60,322,167 		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 8:59,977,717...59,984,706
Ensembl chr 8:59,976,623...59,990,901 		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 8:60,004,034...60,009,782
Ensembl chr 8:60,004,034...60,009,667 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:59,989,814...59,995,528 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,904,218...59,977,595
Ensembl chr 8:59,904,218...59,978,447 		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 8:59,875,537...59,900,947
Ensembl chr 8:59,868,214...59,900,818
Ensembl chr 1:59,868,214...59,900,818 		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 8:60,009,818...60,014,625 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 8:60,284,745...60,306,687
Ensembl chr 8:60,283,904...60,305,377 		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 8:59,989,640...59,991,215
Ensembl chr 8:59,976,623...59,990,901 		JBrowse link
G Il18 interleukin 18 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,261,325...60,280,797
Ensembl chr 8:60,263,456...60,281,418 		JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,306,609...60,306,692 JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,306,091...60,306,167 JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,852,037...59,863,295
Ensembl chr 8:59,852,726...59,863,181 		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 8:59,863,271...59,871,465
Ensembl chr 8:59,862,899...59,887,927 		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 8:60,418,173...60,445,176
Ensembl chr 8:60,436,844...60,445,176 		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 8:60,484,596...60,493,475
Ensembl chr 8:60,484,596...60,493,821 		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 8:60,092,540...60,125,512
Ensembl chr 8:60,081,553...60,125,795 		JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,767,234...59,774,265
Ensembl chr 8:59,765,185...59,774,265 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:59,841,090...59,850,641 		JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr 8:60,121,913...60,221,707
Ensembl chr 8:60,121,913...60,221,818 		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 8:59,804,662...59,813,423 		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 8:59,850,737...59,852,117
Ensembl chr 8:59,850,728...59,852,962 		JBrowse link
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name 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 3:109,886,919...109,913,295
Ensembl chr 3:109,886,953...109,915,862 		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 3:109,826,579...109,886,869
Ensembl chr 3:109,827,209...109,886,905 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        mitochondrial metabolism disease 836
          pyruvate decarboxylase deficiency 67
            Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
            Pyruvate Dehydrogenase E1 Alpha Deficiency 18
            Pyruvate Dehydrogenase E1-Beta Deficiency 17
            Pyruvate Dehydrogenase E2 Deficiency 25
            Pyruvate Dehydrogenase E3-Binding Protein Deficiency 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              developmental disorder of mental health 5679
                specific developmental disorder 4650
                  intellectual disability 4415
                    X-Linked Intellectual Developmental Disorders 829
                      pyruvate decarboxylase deficiency 67
                        Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 2
                        Pyruvate Dehydrogenase E1 Alpha Deficiency 18
                        Pyruvate Dehydrogenase E1-Beta Deficiency 17
                        Pyruvate Dehydrogenase E2 Deficiency 25
                        Pyruvate Dehydrogenase E3-Binding Protein Deficiency 2
paths to the root