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
Accession: DOID:0050758
browse the term
Definition: An acquired metabolic disease that characterized by excessive production of acid. (DO)
Synonyms: exact_synonym: metabolic acidoses
For additional species annotation, visit the
Alliance of Genome Resources .
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Car1
carbonic anhydrase 1
ISO
ClinVar Annotator: match by term: Metabolic acidosis
ClinVar
PMID:25741868
NCBI chr 2:88,185,204...88,227,486
Ensembl chr 2:88,217,188...88,227,479
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Dab2
DAB adaptor protein 2
IEP
protein:decreased expression:brush border membrane
RGD
PMID:22357915
RGD:7243154
NCBI chr 2:55,747,353...55,768,848
Ensembl chr 2:55,747,318...55,768,270
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Edn1
endothelin 1
treatment
IDA
RGD
PMID:17255858
RGD:1625312
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
ClinVar Annotator: match by term: Metabolic acidosis
ClinVar
PMID:25741868
NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
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Kcnj16
potassium inwardly-rectifying channel, subfamily J, member 16
IMP
compared to SS/JrHsdMcwi
RGD
PMID:30605394
RGD:38500203
NCBI chr10:99,330,894...99,391,551
Ensembl chr10:99,388,130...99,389,898
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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
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Myh9
myosin, heavy chain 9
IEP
protein:increased expression:brush border membrane
RGD
PMID:22357915
RGD:7243154
NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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Rhcg
Rh family, C glycoprotein
IEP
protein:increased expression:medulla, kidney collecting duct intercalated cell
RGD
PMID:16144966
RGD:8554685
NCBI chr 1:141,325,854...141,349,881
Ensembl chr 1:141,325,856...141,349,881
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Slc38a3
solute carrier family 38, member 3
treatment
IEP
RGD
PMID:16954343
RGD:9999224
NCBI chr 8:116,406,258...116,423,752
Ensembl chr 8:116,406,241...116,422,366
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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 chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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Mrps16
mitochondrial ribosomal protein S16
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2
OMIM ClinVar
PMID:15505824 PMID:25741868
NCBI chr15:4,351,292...4,353,694
Ensembl chr15:4,351,292...4,353,694
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Avil
advillin
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3
ClinVar
NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
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Tsfm
Ts translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar Annotator: match by null
OMIM ClinVar
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25741868 PMID:28492532
NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
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Pc
pyruvate carboxylase
ISO
ClinVar Annotator: match by term: Congenital lactic acidosis
ClinVar
PMID:32581362
NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
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Pet100
PET100 cytochrome c oxidase chaperone
ISO
ClinVar Annotator: match by term: Congenital lactic acidosis
ClinVar
PMID:25293719 PMID:25741868
NCBI chr12:2,170,630...2,173,259
Ensembl chr12:2,170,630...2,173,251
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Dld
dihydrolipoamide dehydrogenase
ISO
ClinVar Annotator: match by term: Maple syrup urine disease, type 3 ClinVar Annotator: match by term: LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO ClinVar Annotator: match by OMIM:246900
OMIM ClinVar
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 PMID:8652022 PMID:8968745 PMID:9298831 PMID:9540846 PMID:9934985 PMID:10448086 PMID:11687750 PMID:12925875 PMID:14765544 PMID:15712224 PMID:15946682 PMID:16442803 PMID:16601893 PMID:16770810 PMID:17404228 PMID:18362926 PMID:20652410 PMID:20672374 PMID:21558426 PMID:21930696 PMID:23290025 PMID:23478190 PMID:23995961 PMID:24012808 PMID:24516753 PMID:25251739 PMID:25356417 PMID:25741868 PMID:27144126 PMID:27290639 PMID:27544700 PMID:27896107 PMID:28492532
NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
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Aqp2
aquaporin 2
ISO
RGD
PMID:12021537
RGD:2314345
NCBI chr 7:141,237,802...141,242,837
Ensembl chr 7:141,237,768...141,245,165
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Ins2
insulin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11430560
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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Insr
insulin receptor
ISO
RGD
PMID:15254588
RGD:1302526
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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Pax4
paired box 4
susceptibility
ISO
ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to
ClinVar OMIM
PMID:15509590 PMID:18414213 PMID:25741868
NCBI chr 4:55,735,640...55,753,461
Ensembl chr 4:55,735,682...55,740,627
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Serpina7
serpin family A member 7
ISO
protein:decreased expression:serum
RGD
PMID:6768790
RGD:2312332
NCBI chr X:110,226,565...110,232,202
Ensembl chr X:110,226,572...110,232,179
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Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO
ClinVar Annotator: match by term: GRACILE syndrome ClinVar Annotator: match by OMIM:603358
OMIM ClinVar
PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24236502 PMID:24655110 PMID:25326637 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:26489029 PMID:27959697 PMID:28105683 PMID:28322498 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:31435670
NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
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Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by OMIM:617021 ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
ClinVar OMIM
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:30737337 PMID:32442335
NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
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Lias
lipoic acid synthetase
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar Annotator: match by OMIM:614462
OMIM ClinVar
PMID:2152680 PMID:9536098 PMID:17576681 PMID:22152680 PMID:24334290 PMID:25741868 PMID:26467025 PMID:27923773 PMID:28492532
NCBI chr14:44,507,217...44,524,287
Ensembl chr14:44,507,218...44,524,252
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Rpl9
ribosomal protein L9
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
ClinVar
PMID:28492532
NCBI chr14:44,524,419...44,527,613
Ensembl chr14:44,524,416...44,527,613
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Ugdh
UDP-glucose 6-dehydrogenase
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
ClinVar
PMID:28492532
NCBI chr14:44,479,614...44,502,845
Ensembl chr14:44,479,614...44,502,845
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Apoo
apolipoprotein O
ISO
ClinVar Annotator: match by term: Lactic acidosis
ClinVar
NCBI chr X:63,521,033...63,625,134
Ensembl chr X:63,520,991...63,625,134
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Atp5f1a
ATP synthase F1 subunit alpha
ISO
ClinVar Annotator: match by term: Lactic acidosis
ClinVar
PMID:25741868
NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
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Dnm1l
dynamin 1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17460227
NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
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Kars
lysyl-tRNA synthetase
ISO
ClinVar Annotator: match by term: Lactic acidosis
ClinVar
PMID:30252186
NCBI chr19:44,212,205...44,231,209
Ensembl chr19:44,212,206...44,231,157
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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
Ensembl chr MT:7,919...8,599
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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
Ensembl chr MT:8,599...9,382
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Mt-nd6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISS
MouseDO
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Ndufs4
NADH:ubiquinone oxidoreductase subunit S4
ISO
ClinVar Annotator: match by term: Lactic acidosis
ClinVar
PMID:25741868 PMID:33093004
NCBI chr 2:46,372,488...46,476,162
Ensembl chr 2:46,372,518...46,476,203
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Pdha1
pyruvate dehydrogenase E1 subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2537010
NCBI chr X:37,329,779...37,343,410
Ensembl chr X:37,329,779...37,343,410
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25331496
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Pygl
glycogen phosphorylase L
IAGP
DNA:mutation:multiple
RGD
PMID:17705025
RGD:11071447
NCBI chr 6:92,597,759...92,643,734
Ensembl chr 6:92,597,706...92,643,847
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Rrm2b
ribonucleotide reductase regulatory TP53 inducible subunit M2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138848
NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
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Uqcrfs1
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
ISO
ClinVar Annotator: match by term: Lactic acidosis
ClinVar
PMID:31883641
NCBI chr17:35,677,984...35,682,262
Ensembl chr17:35,677,984...35,682,259
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Suclg1
succinate-CoA ligase GDP/ADP-forming subunit alpha
ISO
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) ClinVar Annotator: match by OMIM:245400
OMIM ClinVar
PMID:17287286 PMID:17668387 PMID:19526370 PMID:20453710 PMID:20693550 PMID:21639866 PMID:25326635 PMID:25741868 PMID:26475597 PMID:26827111 PMID:27896121 PMID:28492532 PMID:29217198
NCBI chr 4:101,181,315...101,210,692
Ensembl chr 4:101,180,404...101,210,746
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Pnpla8
patatin-like phospholipase domain containing 8
ISO
ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis
ClinVar OMIM
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532
NCBI chr 6:64,224,870...64,288,465
Ensembl chr 6:64,224,861...64,286,785
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Mpc1
mitochondrial pyruvate carrier 1
ISO
ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency ClinVar Annotator: match by OMIM:614741
OMIM ClinVar
PMID:12649063 PMID:22628558 PMID:25741868
NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
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Iscu
iron-sulfur cluster assembly enzyme
ISO
ClinVar Annotator: match by term: Myopathy with lactic acidosis, hereditary ClinVar Annotator: match by OMIM:255125
OMIM ClinVar
PMID:18296749 PMID:18304497 PMID:19567699 PMID:19846308 PMID:20206689 PMID:21165651 PMID:22125086 PMID:25741868
NCBI chr12:48,621,454...48,627,297
Ensembl chr12:48,621,454...48,627,297
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Adgrg2
adhesion G protein-coupled receptor G2
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532
NCBI chr X:36,930,186...37,054,968
Ensembl chr X:36,930,186...37,003,642
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Cdkl5
cyclin-dependent kinase-like 5
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532
NCBI chr X:35,536,396...35,773,204
Ensembl chr X:35,599,258...35,771,711
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Map3k15
mitogen-activated protein kinase kinase kinase 15
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:25741868
NCBI chr X:37,342,251...37,755,373
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Pdha1
pyruvate dehydrogenase E1 subunit alpha 1
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase e1-alpha deficiency ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 PMID:1779625 PMID:1907799 PMID:1909401 PMID:1909778 PMID:2828359 PMID:3034892 PMID:3137520 PMID:7573035 PMID:7692352 PMID:7887409 PMID:7981697 PMID:8032855 PMID:8199595 PMID:8504306 PMID:8504309 PMID:8598634 PMID:8771169 PMID:8962591 PMID:9266390 PMID:9671272 PMID:9686362 PMID:10486093 PMID:10679936 PMID:10775534 PMID:11102541 PMID:11241048 PMID:12379317 PMID:12551913 PMID:17043409 PMID:18023225 PMID:18197404 PMID:20002125 PMID:20002461 PMID:20591708 PMID:20691944 PMID:21846590 PMID:21914562 PMID:22473288 PMID:23021068 PMID:23871722 PMID:24718837 PMID:25326635 PMID:25326637 PMID:25495354 PMID:25590979 PMID:25741868 PMID:26633542 PMID:26865159 PMID:28492532 PMID:28639102 PMID:28918066 PMID:31673819
NCBI chr X:37,329,779...37,343,410
Ensembl chr X:37,329,779...37,343,410
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Pdhx
pyruvate dehydrogenase complex, component X
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
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Phka2
phosphorylase kinase regulatory subunit alpha 2
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532
NCBI chr X:35,970,650...36,926,616
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Ppef1
protein phosphatase with EF-hand domain 1
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532
NCBI chr X:35,822,687...35,947,690
Ensembl chr X:35,869,538...35,947,282
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Rs1
retinoschisin 1
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
ClinVar
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532
NCBI chr X:35,749,957...35,777,243
Ensembl chr X:35,749,957...35,777,243
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Dlat
dihydrolipoamide S-acetyltransferase
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar Annotator: match by OMIM:245348
OMIM ClinVar
PMID:16049940 PMID:25741868 PMID:28492532 PMID:29093066
NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
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Pih1d2
PIH1 domain containing 2
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
ClinVar
PMID:16049940 PMID:28492532
NCBI chr 8:55,050,284...55,060,289
Ensembl chr 8:55,050,284...55,058,474
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Apip
APAF1 interacting protein
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency
ClinVar
PMID:25741868
NCBI chr 3:92,969,128...92,998,104
Ensembl chr 3:92,969,141...92,995,483
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Pdhx
pyruvate dehydrogenase complex, component X
ISO
ClinVar Annotator: match by OMIM:245349 ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar Annotator: match by term: Pyruvate dehydrogenase e3-binding protein deficiency ClinVar Annotator: match by null
ClinVar OMIM
PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 PMID:12557299 PMID:16566017 PMID:17152059 PMID:21937992 PMID:25087164 PMID:25326635 PMID:25741868 PMID:28492532
NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
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Pdhb
pyruvate dehydrogenase E1 subunit beta
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency
ClinVar
PMID:28492532
NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
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Pdp1
pyruvate dehydrogenase phosphatase catalytic subunit 1
ISO
ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency ClinVar Annotator: match by OMIM:608782 ClinVar Annotator: match by null
OMIM ClinVar
PMID:15855260 PMID:19184109 PMID:31392110
NCBI chr 5:25,577,593...25,584,325
Ensembl chr 5:25,577,451...25,584,288
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Slc25a42
solute carrier family 25, member 42
ISO
ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION
OMIM ClinVar
PMID:25741868 PMID:26541337 PMID:29327420 PMID:29923093 PMID:30237576
NCBI chr16:20,962,144...21,000,191
Ensembl chr16:20,962,227...20,985,225
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