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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 Metabolism, Inborn Errors
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Accession:DOID:9002994 term browser browse the term
Definition:Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.
Synonyms:primary_id: MESH:D015323;   RDO:0001760
For additional species annotation, visit the Alliance of Genome Resources.


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Pyruvate Metabolism, Inborn Errors term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2378353 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
ClinVar Annotator: match by OMIM:614739
OMIM
ClinVar
PMID:16527507, PMID:22683713, PMID:23707711, PMID:24033266, PMID:24997715, PMID:25016221, PMID:25741868, PMID:28482397, PMID:28492532, PMID:28778788, PMID:28916646, PMID:32313153 NCBI chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261
JBrowse link
French Canadian Leigh disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type
ClinVar Annotator: match by term: Leigh syndrome, French Canadian type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:220111
OMIM
ClinVar
CTD
PMID:12529507, PMID:15139850, PMID:17050673, PMID:18414213, PMID:20200222, PMID:21266382, PMID:21437181, PMID:22494076, PMID:24033266, PMID:25741868, PMID:26510951, PMID:26741492, PMID:27408822, PMID:27574110, PMID:28492532, PMID:29152527, PMID:30311386 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:22152680, PMID:24334290, PMID:26467025, PMID:27923773, PMID:28492532 NCBI chr14:44,507,217...44,524,287
Ensembl chr14:44,507,218...44,524,252
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Leigh disease term browser
Symbol Object Name 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 OMIM:256000
ClinVar Annotator: match by term: Leigh syndrome
ClinVar
MouseDO
PMID:9545407, PMID:12215968, PMID:12910490, PMID:17314340, PMID:17403714, PMID:18771761, PMID:19389488, PMID:19508421, PMID:20518024, PMID:22277166, PMID:24033266, PMID:24172246, PMID:25741868, PMID:25895478, PMID:25914718, PMID:26467025, PMID:28492532 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by OMIM:256000
ClinVar Annotator: match by term: Leigh syndrome
ClinVar PMID:23814038, PMID:25741868, PMID:28492532 NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:15863660, PMID:21412973, PMID:22310368, PMID:25741868, PMID:26959537, PMID:28492532, PMID:15235026 RGD:1598467 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505
JBrowse link
G Cutc cutC copper transporter ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 1:263,511,537...263,526,308
Ensembl chr 1:263,511,537...263,526,307
JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease
ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Leigh syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25125611, PMID:25393721, PMID:26099313 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
JBrowse link
G Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 1:263,448,633...263,490,308
Ensembl chr 1:263,448,633...263,490,308
Ensembl chr 1:263,448,633...263,490,308
JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017
JBrowse link
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:31944455 NCBI chr 9:70,448,386...70,471,420
Ensembl chr 9:70,450,444...70,470,550
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
ClinVar Annotator: match by term: Leigh's disease
ClinVar PMID:20818383, PMID:22200994, PMID:23757202, PMID:24033266, PMID:25678554, PMID:25741868, PMID:25803036, PMID:28492532, PMID:28654958, PMID:30311386, PMID:30723688 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease
ClinVar PMID:12468279, PMID:25741868 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leigh's disease ClinVar PMID:25130867, PMID:28492532 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO Leigh syndrome French Canadian variant
ClinVar Annotator: match by term: Leigh syndrome
ClinVar PMID:28492532, PMID:17050673, PMID:12529507 RGD:1600674, RGD:1600676 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868
JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:2877793, PMID:25741868, PMID:28777931 NCBI chr10:14,257,001...14,258,132
Ensembl chr10:14,257,001...14,258,132
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome
ClinVar PMID:1436530, PMID:1539598, PMID:1550128, PMID:2137962, PMID:3612192, PMID:7668837, PMID:7726182, PMID:8042671, PMID:8095070, PMID:8190310, PMID:8250532, PMID:8395787, PMID:8554662, PMID:8602753, PMID:8630495, PMID:8644724, PMID:8750605, PMID:9199572, PMID:9270604, PMID:9329425, PMID:9501263, PMID:9556461, PMID:9568930, PMID:9631394, PMID:9762610, PMID:9883875, PMID:10590437, PMID:10660580, PMID:10676807, PMID:10889120, PMID:11076946, PMID:11119722, PMID:11245730, PMID:11371515, PMID:11382202, PMID:11730668, PMID:11731285, PMID:11751691, PMID:11843698, PMID:11916326, PMID:11925565, PMID:14697245, PMID:14998933, PMID:15120634, PMID:16049925, PMID:16050984, PMID:16217706, PMID:17123466, PMID:17352390, PMID:17452590, PMID:17663470, PMID:18055910, PMID:18216301, PMID:18461509, PMID:18495510, PMID:18682780, PMID:19454486, PMID:19626676, PMID:19667215, PMID:20211276, PMID:22110754, PMID:22231385, PMID:22577227, PMID:22789932, PMID:22933740, PMID:23206802, PMID:23266623, PMID:23304069, PMID:24002810, PMID:24088041, PMID:24118886, PMID:24986921, PMID:25741868, PMID:26633545, PMID:26993169, PMID:28027978, PMID:29307858, PMID:30311386, PMID:32313153, PMID:32581362 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:1757091, PMID:7633428, PMID:9243242, PMID:11062027, PMID:14697245, PMID:17101920, PMID:18682780, PMID:20207608, PMID:24153443, PMID:25741868, PMID:25941154, PMID:26993169 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:1322638, PMID:1634041, PMID:1732158, PMID:8060346, PMID:8240356, PMID:8680405, PMID:9742104, PMID:9806551, PMID:9832034, PMID:10577941, PMID:12140182, PMID:13298683, PMID:15647368, PMID:16152638, PMID:17659260, PMID:19460299, PMID:20301595, PMID:22130971, PMID:24713204, PMID:25701779, PMID:25741868, PMID:26467025 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:11799391, PMID:12612282, PMID:17637808, PMID:18337306, PMID:19398658, PMID:22241583, PMID:24931671, PMID:25741868, PMID:26467025, PMID:32313153 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome
ClinVar PMID:7496173, PMID:7573056, PMID:7804416, PMID:8037217, PMID:8240356, PMID:11063732, PMID:15823923, PMID:16358358, PMID:17403843, PMID:18587274, PMID:20525945, PMID:23645088, PMID:25741868, PMID:30311386 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease
ClinVar PMID:1732158, PMID:1764087, PMID:7901141, PMID:8240104, PMID:8321540, PMID:8755941, PMID:9806551, PMID:10329023, PMID:10453733, PMID:10894993, PMID:10960495, PMID:11047755, PMID:11891837, PMID:12150954, PMID:12905068, PMID:13298683, PMID:17003408, PMID:17637808, PMID:19062322, PMID:19555656, PMID:22241583, PMID:24667782, PMID:25741868, PMID:26566881, PMID:28027978 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh Disease
ClinVar PMID:1417830, PMID:1442494, PMID:1550131, PMID:1674640, PMID:1732158, PMID:1734726, PMID:1900003, PMID:1928099, PMID:1959619, PMID:7624338, PMID:8496715, PMID:9299504, PMID:9806551, PMID:10519336, PMID:10520236, PMID:10521313, PMID:10704697, PMID:11238687, PMID:11854175, PMID:11938495, PMID:12160969, PMID:12205655, PMID:12406974, PMID:12610069, PMID:12756609, PMID:13298683, PMID:14681830, PMID:15465027, PMID:15466014, PMID:15896721, PMID:15972314, PMID:15977098, PMID:16050984, PMID:16738010, PMID:16807713, PMID:16828917, PMID:16849371, PMID:16895436, PMID:16949108, PMID:17454741, PMID:17517629, PMID:17535832, PMID:17620555, PMID:17637808, PMID:18216301, PMID:18502698, PMID:18504678, PMID:18691441, PMID:18977334, PMID:20211276, PMID:20643099, PMID:20978534, PMID:21129724, PMID:21144833, PMID:21296687, PMID:21364701, PMID:22241583, PMID:22780954, PMID:24063851, PMID:24146900, PMID:24153443, PMID:24986921, PMID:25741868, PMID:26262956, PMID:26428318, PMID:26467025, PMID:27177320, PMID:27343181, PMID:28187756, PMID:28708239, PMID:28821228, PMID:29330893, PMID:30311386 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: Leigh Disease
ClinVar Annotator: match by term: Leigh syndrome
ClinVar PMID:1900003, PMID:11479733, PMID:11820805, PMID:12406974, PMID:15286228, PMID:16738010, PMID:18682780, PMID:19370763, PMID:25741868, PMID:28187756, PMID:29481798 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO DNA:mutation
ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh Disease
ClinVar Annotator: match by term: Leigh's disease
ClinVar PMID:6343397, PMID:11456298, PMID:12227465, PMID:14684687, PMID:14705112, PMID:14764913, PMID:15372108, PMID:15576045, PMID:16023078, PMID:17066297, PMID:17152068, PMID:17413873, PMID:17535832, PMID:19458970, PMID:20202874, PMID:25118196, PMID:25741868, PMID:14705112 RGD:5507824 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome
ClinVar PMID:1323207, PMID:1469456, PMID:3395302, PMID:8213827, PMID:8644732, PMID:12707444, PMID:14581685, PMID:15576045, PMID:15972314, PMID:16120329, PMID:17022785, PMID:25741868, PMID:28027978 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:19394449, PMID:20643099, PMID:29444077 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO DNA:mutation: exon:m.13513 G>A (D393N)(human)
ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome
ClinVar PMID:1417830, PMID:1732158, PMID:1764087, PMID:1900003, PMID:9299505, PMID:10589546, PMID:11102991, PMID:11198278, PMID:11938446, PMID:12624137, PMID:14520659, PMID:14684687, PMID:14730434, PMID:15521990, PMID:15576045, PMID:16306525, PMID:17003408, PMID:17264866, PMID:17317336, PMID:17400793, PMID:17535832, PMID:17940288, PMID:18246027, PMID:18332249, PMID:18524835, PMID:18977334, PMID:21131053, PMID:22780954, PMID:23463613, PMID:25701779, PMID:25741868, PMID:27422531, PMID:29987491, PMID:18495510 RGD:5491185 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:missense mutation: :m.14487T>C (p.M63V) (human)
ClinVar Annotator: match by term: Leigh's disease
ClinVar Annotator: match by term: Leigh syndrome
ClinVar PMID:1463007, PMID:1634041, PMID:5511487, PMID:7654063, PMID:8016139, PMID:8470982, PMID:8622678, PMID:8854108, PMID:9012411, PMID:9177303, PMID:9849804, PMID:10072046, PMID:10631164, PMID:10894222, PMID:11241853, PMID:11781695, PMID:12205655, PMID:12736867, PMID:12827453, PMID:14520668, PMID:14595656, PMID:14684687, PMID:14735585, PMID:15576045, PMID:15637703, PMID:15922297, PMID:15954041, PMID:16337195, PMID:16380132, PMID:18524835, PMID:18674747, PMID:19555656, PMID:21457906, PMID:21504270, PMID:21838605, PMID:24088041, PMID:25741868, PMID:26633545, PMID:29987491, PMID:20019223 RGD:6482231 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Subacute necrotizing encephalopathy ClinVar PMID:21907147, PMID:22499348, PMID:23499752, PMID:24088041, PMID:24123792, PMID:24461907, PMID:25058219, PMID:25288793, PMID:25741868, PMID:25911677, PMID:26060307, PMID:26633545, PMID:27290639, PMID:28058511, PMID:28492532, PMID:30311386 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:99,617,051...99,651,827
Ensembl chr 9:99,617,052...99,651,813
JBrowse link
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 7:35,125,516...35,163,182
Ensembl chr 7:35,125,424...35,167,406
JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:10649489, PMID:16200211, PMID:16950771, PMID:18180188, PMID:19384974, PMID:20571988, PMID:20818383, PMID:22644603, PMID:25326635, PMID:25741868, PMID:26795593, PMID:28492532 NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560
JBrowse link
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973
JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868, PMID:26741492 NCBI chr 5:24,297,169...24,320,804
Ensembl chr 5:24,297,094...24,320,786
JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO DNA:missense mutation:cds:p.M292T (human) RGD PMID:20819849 RGD:6482269 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leigh syndrome
CTD
ClinVar
PMID:8602753, PMID:14729820, PMID:19167255, PMID:19336460, PMID:20818383, PMID:20819849, PMID:22114105, PMID:22499348, PMID:24028823, PMID:25978847, PMID:28031252, PMID:28492532 NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879
JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Leigh syndrome
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutation:cds:c.426delA (human)
DNA:transition:intron:IVS1-1G>A (human)
ClinVar
CTD
PMID:9463323, PMID:11112787, PMID:11181577, PMID:12616398, PMID:16213125, PMID:19107570, PMID:19364667, PMID:20818383, PMID:22326555, PMID:24020637, PMID:25741868, PMID:27079373, PMID:28492532, PMID:22535952, PMID:20534480, PMID:22653057, PMID:19107570, PMID:12616398 RGD:6484662, RGD:12914767, RGD:12914766, RGD:6484698, RGD:6484669 NCBI chr 2:46,372,488...46,476,162
Ensembl chr 2:46,372,518...46,476,203
JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease
ClinVar PMID:12468279, PMID:25741868, PMID:28492532 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392
JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by OMIM:256000
ClinVar Annotator: match by term: Leigh syndrome
ClinVar PMID:9837812, PMID:20818383, PMID:24595071, PMID:25326637, PMID:25741868, PMID:28492532 NCBI chr 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610
JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:24642831, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:219,254,293...219,259,328
Ensembl chr 1:219,254,279...219,259,448
JBrowse link
G Parl presenilin associated, rhomboid-like ISS OMIM:220111 | OMIM:256000 MouseDO NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462
JBrowse link
G Sco1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr10:53,595,854...53,608,437
Ensembl chr10:53,595,854...53,608,435
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO DNA:missense mutation:cds:p.R554W (human)
ClinVar Annotator: match by term: Leigh syndrome
ClinVar
OMIM
PMID:7550341, PMID:11423010, PMID:16195397, PMID:16798039, PMID:17298551, PMID:17376234, PMID:20484225, PMID:20489732, PMID:21505157, PMID:21752896, PMID:21858060, PMID:22677546, PMID:22904323, PMID:22955521, PMID:23174939, PMID:23252569, PMID:23612575, PMID:23666964, PMID:23730622, PMID:24033266, PMID:24448499, PMID:24781757, PMID:25494863, PMID:25720320, PMID:25741868, PMID:26113600, PMID:26173966, PMID:26259135, PMID:26269449, PMID:26490314, PMID:27011036, PMID:27493882, PMID:27895137, PMID:28384794, PMID:28492532, PMID:28500238, PMID:28546994, PMID:28724664, PMID:28819017, PMID:29177515, PMID:29872718, PMID:29978154, PMID:30050099, PMID:30068732, PMID:30201732, PMID:30311386, PMID:7550341 RGD:724604 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISS OMIM:256000 MouseDO NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:220111 | OMIM:256000 MouseDO NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Leigh syndrome
ClinVar Annotator: match by term: Leigh's disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9837813, PMID:10443880, PMID:10558868, PMID:10636738, PMID:10746561, PMID:11423010, PMID:12515039, PMID:14557577, PMID:16225813, PMID:16326995, PMID:16542579, PMID:16765830, PMID:18583168, PMID:19780766, PMID:20624914, PMID:20843780, PMID:22488715, PMID:23806086, PMID:23829769, PMID:24027061, PMID:24088041, PMID:24462369, PMID:25326637, PMID:25741868, PMID:26257172, PMID:26443249, PMID:26762927, PMID:27475922, PMID:27756633, PMID:27896082, PMID:28429146, PMID:28492532, PMID:29933018, PMID:9843204 RGD:1599193 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link
G Taco1 translational activator of cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:19503089 NCBI chr10:94,260,148...94,268,276
Ensembl chr10:94,260,197...94,268,222
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464
JBrowse link
G Timmdc1 translocase of inner mitochondrial membrane domain containing 1 ISO ClinVar Annotator: match by term: Leigh syndrome ClinVar PMID:25741868 NCBI chr11:64,790,801...64,815,484
Ensembl chr11:64,790,801...64,815,477
JBrowse link
Leigh Syndrome Due To Mitochondrial Complex I Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by null ClinVar PMID:16738010 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency
ClinVar PMID:9299505, PMID:10589546, PMID:11938446, PMID:12509858, PMID:12624137, PMID:12796552, PMID:14520659, PMID:14684687, PMID:14730434, PMID:15576045, PMID:15767514, PMID:16306525, PMID:16816025, PMID:17317336, PMID:17400793, PMID:18332249, PMID:25741868 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency ClinVar PMID:7654063, PMID:8016139, PMID:8622678, PMID:10894222, PMID:12205655, PMID:14520668, PMID:14595656, PMID:14684687, PMID:14735585, PMID:15576045, PMID:16337195, PMID:16380132 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
Leigh Syndrome due to Mitochondrial Complex III Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex III deficiency ClinVar PMID:11528392, PMID:17314340, PMID:20518024, PMID:23892085, PMID:24655110, PMID:28492532, PMID:29090881 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link
Leigh Syndrome, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:7692352, PMID:8032855, PMID:8598634, PMID:23871722, PMID:25741868, PMID:28492532 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
Lipoyltransferase 1 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipt1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar
OMIM
PMID:24256811, PMID:24341803, PMID:25326635, PMID:25741868 NCBI chr 9:44,466,627...44,471,986
Ensembl chr 9:44,466,627...44,471,986
JBrowse link
G Mitd1 microtubule interacting and trafficking domain containing 1 ISO ClinVar Annotator: match by term: LIPOYLTRANSFERASE 1 DEFICIENCY
ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency
ClinVar PMID:24256811, PMID:24341803, PMID:25326635, PMID:25741868 NCBI chr 9:44,472,364...44,483,723
Ensembl chr 9:44,472,365...44,560,837
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency ClinVar PMID:25637381, PMID:25741868, PMID:27879251, PMID:28492532, PMID:31042466 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
Maternally Inherited Leigh Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:point mutation: :m.9185T>C (human)
CTD Direct Evidence: marker/mechanism
DNA:point mutation: :m.9176T>C (human)
DNA:transversion: :m.8993T>G (human)
CTD PMID:27129022, PMID:18461509, PMID:15709156, PMID:14598233 RGD:5490262, RGD:5490270, RGD:5490291 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snps:cds:p.E59K, p.R159Q (human) RGD PMID:20301352 RGD:5148009 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
JBrowse link
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Echs1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Mitochondrial short-chain enoyl-coa hydratase 1 deficiency OMIM
ClinVar
PMID:25125611, PMID:25393721, PMID:25741868, PMID:26000322, PMID:26081110, PMID:26099313, PMID:26251176, PMID:26920905, PMID:26938784, PMID:27090768, PMID:27221955, PMID:27905109, PMID:28039521, PMID:28106320, PMID:28202214, PMID:28409271, PMID:28755360, PMID:29575569, PMID:31219693, PMID:32313153 NCBI chr 1:212,570,213...212,579,040
Ensembl chr 1:212,570,195...212,579,057
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: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar PMID:24033266, PMID:25741868 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial ClinVar
OMIM
PMID:24033266, PMID:25741868 NCBI chr15:34,216,735...34,224,357
Ensembl chr15:34,216,833...34,224,193
JBrowse link
pyruvate carboxylase deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pc pyruvate carboxylase ISO DNA:missense mutations:cds:p.A650T, p.M743I (human)
ClinVar Annotator: match by term: Pyruvate carboxylase deficiency
ClinVar Annotator: match by OMIM:266150
ClinVar
OMIM
PMID:9585002, PMID:9585612, PMID:12112657, PMID:18676167, PMID:19306334, PMID:23430542, PMID:23973720, PMID:25058219, PMID:25741868, PMID:27290639, PMID:28492532, PMID:28831725, PMID:9585612 RGD:737741 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
pyruvate decarboxylase 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 complex deficiency ClinVar NCBI chr 3:92,969,128...92,998,104
Ensembl chr 3:92,969,141...92,995,483
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISS OMIM:245348 | OMIM:245349 | OMIM:312170 | OMIM:608782 | OMIM:614111 MouseDO 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 ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
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
ClinVar Annotator: match by term: Pyruvate dehydrogenase e1-alpha deficiency
DNA:mutations: :multiple
ClinVar Annotator: match by OMIM:312170
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2378353, PMID:7692352, PMID:8032855, PMID:8598634, PMID:21914562, PMID:23871722, PMID:25741868, PMID:28492532, PMID:10679936, PMID:20685142, PMID:20002461 RGD:731230, RGD:13207454, RGD:13207453 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 ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15138885, PMID:15138885 RGD:1599115 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO
ISS
ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency
OMIM:245348 | OMIM:245349 | OMIM:312170 | OMIM:608782 | OMIM:614111
ClinVar
MouseDO
NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
JBrowse link
G Pdp1 pyruvate dehyrogenase phosphatase catalytic subunit 1 ISS OMIM:245348 | OMIM:245349 | OMIM:312170 | OMIM:608782 | OMIM:614111 MouseDO NCBI chr 5:25,577,593...25,584,325
Ensembl chr 5:25,577,451...25,584,288
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: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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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:7887408, PMID:7887409, 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:11727201, PMID:12379317, PMID:12551913, PMID:12673792, PMID:15384102, PMID:17043409, PMID:18023225, PMID:18197404, PMID:20002125, PMID:20002461, PMID:20301601, PMID:20591708, PMID:20691944, PMID:21846590, PMID:21914562, PMID:22473288, PMID:23021068, PMID:23871722, PMID:24718837, PMID:25326635, PMID:25526709, PMID:25590979, PMID:25741868, PMID:26008863, PMID:26633542, PMID:26865159, PMID:26944031, PMID:27144126, PMID:27896109, PMID:28492532, PMID:28639102, PMID:28918066, PMID:30311386 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
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 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name 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 E1-beta deficiency
ClinVar Annotator: match by OMIM:614111
OMIM
ClinVar
PMID:15138885, PMID:18164639, PMID:19924563, PMID:21914562, PMID:25356417, PMID:25741868, PMID:26014431, PMID:26865159, PMID:28492532 NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
JBrowse link
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
ClinVar Annotator: match by OMIM:245348
OMIM
ClinVar
PMID:1293379, PMID:16049940, PMID:20022530, PMID:22079328, PMID:25741868, PMID:28492532, PMID:29093066 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G 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
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 NCBI chr 3:92,969,128...92,998,104
Ensembl chr 3:92,969,141...92,995,483
JBrowse link
G 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
JBrowse link
pyruvate kinase deficiency of red cells term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells ClinVar NCBI chr 2:188,458,851...188,471,916
Ensembl chr 2:188,454,853...188,471,988
JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
ClinVar Annotator: match by OMIM:266200
DNA:missense mutation:cds:p.G338D (mouse)
associated with Anemia, Hemolytic;DNA:mutations:multiple (human)
human gene complementing mouse knockout
OMIM
ClinVar
PMID:1536957, PMID:1670447, PMID:1896471, PMID:1937486, PMID:2018831, PMID:7655861, PMID:7702630, PMID:7706479, PMID:7919353, PMID:7948315, PMID:8161798, PMID:8483951, PMID:9057665, PMID:9389718, PMID:9657767, PMID:9827908, PMID:9886305, PMID:10828047, PMID:11054094, PMID:11328279, PMID:11698298, PMID:11960989, PMID:12393511, PMID:14014643, PMID:14255553, PMID:15491302, PMID:15953013, PMID:16704447, PMID:17574881, PMID:18172691, PMID:18420493, PMID:18759866, PMID:19085939, PMID:19758413, PMID:21815188, PMID:21833022, PMID:23082140, PMID:24033266, PMID:25741868, PMID:26658699, PMID:26728349, PMID:26832193, PMID:27346685, PMID:27871768, PMID:28133914, PMID:28492532, PMID:7579416, PMID:16704447, PMID:19755962 RGD:11537470, RGD:11537382, RGD:11535996 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
Subacute Necrotizing Encephalopathy of Leigh, Infantile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:12215968, PMID:12910490, PMID:19389488, PMID:19508421, PMID:20518024, PMID:22277166, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:20818383, PMID:22200994, PMID:23757202, PMID:24033266, PMID:25678554, PMID:28654958, PMID:30311386, PMID:30723688 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:12468279, PMID:25741868 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:28492532 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:19626676, PMID:22577227, PMID:25741868, PMID:30311386 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9806551, PMID:13298683 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868, PMID:32313153 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:30311386 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9806551, PMID:10960495, PMID:13298683, PMID:24667782 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1550131, PMID:1674640, PMID:1732158, PMID:1734726, PMID:1900003, PMID:1928099, PMID:1959619, PMID:8496715, PMID:11854175, PMID:12205655, PMID:16738010, PMID:17620555 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:11456298, PMID:14684687, PMID:14705112, PMID:14764913, PMID:15372108, PMID:15576045, PMID:16023078, PMID:17152068, PMID:17413873, PMID:17535832, PMID:19458970, PMID:25741868 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:21907147, PMID:22499348, PMID:23499752, PMID:24088041, PMID:24123792, PMID:24461907, PMID:25058219, PMID:25288793, PMID:25741868, PMID:25911677, PMID:26060307, PMID:26633545, PMID:27290639, PMID:28058511, PMID:28492532, PMID:30311386 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:10649489, PMID:16200211, PMID:16950771, PMID:18180188, PMID:19384974, PMID:20571988, PMID:20818383, PMID:22644603, PMID:25326635, PMID:25741868, PMID:26795593, PMID:28492532 NCBI chr 2:39,322,145...39,434,535
Ensembl chr 2:39,321,741...39,434,560
JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868, PMID:26741492 NCBI chr 5:24,297,169...24,320,804
Ensembl chr 5:24,297,094...24,320,786
JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:28492532 NCBI chr 3:79,721,686...79,728,863
Ensembl chr 3:79,721,694...79,728,879
JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:12468279, PMID:25741868 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392
JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9837812, PMID:25741868 NCBI chr 1:219,141,289...219,144,610
Ensembl chr 1:219,141,292...219,144,610
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:20484225, PMID:21505157, PMID:21752896, PMID:22955521, PMID:23174939, PMID:23252569, PMID:23612575, PMID:23666964, PMID:23730622, PMID:24448499, PMID:24781757, PMID:25494863, PMID:25741868, PMID:26113600, PMID:26173966, PMID:26259135, PMID:26269449, PMID:26490314, PMID:27895137, PMID:28384794, PMID:28492532, PMID:28500238, PMID:28819017, PMID:29872718, PMID:30068732, PMID:30311386 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          carbohydrate metabolic disorder 393
            Pyruvate Metabolism, Inborn Errors 76
              Hyperglycinemia, Lactic Acidosis, and Seizures 3
              Leigh disease + 55
              mitochondrial pyruvate carrier deficiency 1
              pyruvate carboxylase deficiency disease + 1
              pyruvate decarboxylase deficiency + 17
              pyruvate kinase deficiency of red cells 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              Pyruvate Metabolism, Inborn Errors 76
                Hyperglycinemia, Lactic Acidosis, and Seizures 3
                Leigh disease + 55
                mitochondrial pyruvate carrier deficiency 1
                pyruvate carboxylase deficiency disease + 1
                pyruvate decarboxylase deficiency + 17
                pyruvate kinase deficiency of red cells 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.