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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:Acid-Base Imbalance
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Accession:DOID:9006795 term browser browse the term
Definition:Disturbances in the ACID-BASE EQUILIBRIUM of the body.
Synonyms:exact_synonym: Acid-Base Imbalances
 primary_id: MESH:D000137;   RDO:0004705
For additional species annotation, visit the Alliance of Genome Resources.



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Acid-Base Imbalance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbp1 fructose-bisphosphatase 1 ISO ClinVar Annotator: match by term: Acid base imbalance ClinVar PMID:25741868 NCBI chr17:2,207,271...2,230,076
Ensembl chr17:2,208,031...2,230,071
JBrowse link
Achlorhydria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 IAGP DNA:deletion:exon (rat) RGD PMID:16368876 RGD:1581602 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
JBrowse link
G Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto IAGP RGD PMID:16368876 RGD:1581602
G Tff1 trefoil factor 1 IEP protein:increased secretion:stomach RGD PMID:11903739 RGD:2292010 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
JBrowse link
G Tlr9 toll-like receptor 9 ISO DNA:SNP:promoter:g.-1237T>C rs5743836 (human) RGD PMID:20038537 RGD:5130741 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
Acidoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin IDA associated with Hemorrhage RGD PMID:17255858 RGD:1625312 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
JBrowse link
G Amt aminomethyltransferase IDA RGD PMID:3877504 RGD:1599107 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
JBrowse link
G Cldn14 claudin 14 IEP mRNA:increased expression:duodenum RGD PMID:17383680 RGD:1600867 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 IEP protein:increased activity:liver (rat) RGD PMID:9472964 RGD:4144071 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IDA RGD PMID:6282936 RGD:2307324 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29618784 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Otc ornithine transcarbamylase IEP protein:increased activity:liver (rat) RGD PMID:9472964 RGD:4144071 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Slc26a4 solute carrier family 26 member 4 IEP mRNA:decreased expression:renal cortex (rat) RGD PMID:12388388 RGD:634144 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
JBrowse link
G Slc34a1 solute carrier family 34 member 1 IEP
ISO
protein:altered expression:kidney, brush border membrane (rat)
mRNA:decreased expression:kidney (mouse)
RGD PMID:19439519 PMID:18535837 RGD:7242944, RGD:7242948 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
JBrowse link
G Slc6a14 solute carrier family 6 member 14 IEP mRNA:increased expression:jejunum RGD PMID:15300171 RGD:1625278 NCBI chr  X:112,314,643...112,375,412
Ensembl chr  X:112,314,691...112,375,096
JBrowse link
G Slc9a4 solute carrier family 9 member A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20484819 NCBI chr 9:42,824,468...42,879,767
Ensembl chr 9:42,825,064...42,879,422
JBrowse link
Alkalosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO CTD Direct Evidence: therapeutic CTD PMID:7182184 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) IEP mRNA,protein:decreased expression:kidney: RGD PMID:10600930 RGD:13208945 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Slc4a2 solute carrier family 4 member 2 IEP associated with Hypercalcemia;protein:decreased expression:kidney outer medulla inner stripe RGD PMID:17367404 RGD:9999377 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
ClinVar Annotator: match by OMIM:259730
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 OMIM
ClinVar
PMID:15505824 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: Combined oxidative phosphorylation deficiency 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 Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS ClinVar PMID:22167769 PMID:25326637 PMID:28492532 PMID:30661052 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G 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 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: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
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: 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 More... NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
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, susceptibility to ClinVar
OMIM
PMID:15509590 PMID:18414213 PMID:25741868 PMID:28492532 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
Distal Renal Tubular Acidosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis
ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 1
ClinVar Annotator: match by term: Renal Tubular Acidosis, Type I
ClinVar
OMIM
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, with progressive deafness
ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness
ClinVar Annotator: match by OMIM:267300
ClinVar
OMIM
PMID:9916796 PMID:12414817 PMID:12566520 PMID:12579397 PMID:16611712 More... NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
JBrowse link
Distal Renal Tubular Acidosis 3, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing
ClinVar Annotator: match by term: Renal tubular acidosis, distal, autosomal recessive
ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9536098 PMID:10973252 PMID:12414817 PMID:16611712 PMID:17576681 More... NCBI chr 4:66,760,159...66,842,110
Ensembl chr 4:66,760,159...66,842,110
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:17409310 RGD:13208934 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Tmem213 transmembrane protein 213 ISO ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive ClinVar NCBI chr 4:66,824,958...66,831,070 JBrowse link
Distal Renal Tubular Acidosis 4 with Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA
ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia
ClinVar Annotator: match by OMIM:611590
OMIM
ClinVar
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia ClinVar PMID:30028003 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
JBrowse link
Distal Renal Tubular Acidosis, with Normal Red Cell Morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by null ClinVar PMID:15211439 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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 ClinVar Annotator: match by term: GRACILE syndrome
ClinVar Annotator: match by OMIM:603358
OMIM
ClinVar
PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
JBrowse link
HUPRA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sars2 seryl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
DNA:missense mutation:CDS:p.D390G (human)
ClinVar Annotator: match by OMIM:613845
OMIM
ClinVar
RGD
PMID:21255763 PMID:24034276 PMID:25741868 PMID:28492532 PMID:21255763 RGD:41410777 NCBI chr 1:84,028,972...84,040,725
Ensembl chr 1:84,028,986...84,040,725
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 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 More... NCBI chr 8:123,010,271...123,108,957
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 Lias lipoic acid synthetase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency OMIM
ClinVar
PMID:2152680 PMID:9536098 PMID:17576681 PMID:22152680 PMID:24334290 More... NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
JBrowse link
G Rpl9 ribosomal protein L9 ISO 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
JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
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:25741868 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
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
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
Ensembl chr MT:13,543...14,061
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
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
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 (encephalomyopathic with methylmalonic aciduria)
ClinVar Annotator: match by OMIM:245400
OMIM
ClinVar
PMID:17287286 PMID:17668387 PMID:19526370 PMID:20453710 PMID:20693550 More... NCBI chr 4:105,308,236...105,337,595
Ensembl chr 4:105,308,039...105,337,600
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
OMIM
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 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: Mitochondrial pyruvate carrier deficiency
ClinVar Annotator: match by OMIM:614741
OMIM
ClinVar
PMID:12649063 PMID:22628558 PMID:25741868 NCBI chr 1:52,437,745...52,449,369
Ensembl chr 1:52,437,741...52,449,400
JBrowse link
Monocarboxylate Transporter 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal recessive OMIM
ClinVar
PMID:25741868 NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
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: Myopathy with lactic acidosis, hereditary
ClinVar Annotator: match by OMIM:255125
OMIM
ClinVar
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
nuclear type mitochondrial complex I deficiency 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:611126
OMIM
ClinVar
CTD
PMID:7599230 PMID:16199547 PMID:17564966 PMID:20816094 PMID:20929961 More... NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of ClinVar PMID:20929961 PMID:21057504 PMID:22499348 PMID:25721401 PMID:27233227 More... NCBI chr 4:120,126,565...120,181,575 JBrowse link
overhydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhag Rh-associated glycoprotein ISO ClinVar Annotator: match by term: Overhydrated hereditary stomatocytosis
ClinVar Annotator: match by term: Stomatocytosis I
OMIM
ClinVar
PMID:1174702 PMID:2765409 PMID:2917122 PMID:13762977 PMID:18931342 More... NCBI chr 9:20,069,800...20,097,836
Ensembl chr 9:20,069,807...20,097,836
JBrowse link
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a4 solute carrier family 4 member 4 ISO ClinVar Annotator: match by term: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
ClinVar Annotator: match by OMIM:604278
OMIM
ClinVar
PMID:10545938 PMID:11274232 PMID:18658147 PMID:20197274 PMID:21234596 More... NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
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:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
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:34,713,150...34,859,054 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 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 3:89,372,472...89,396,759
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:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:34,170,959...34,293,498 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:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:33,994,503...34,151,704
Ensembl chr  X:34,021,350...34,151,701
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 More... NCBI chr  X:33,963,657...33,992,115
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name Qualifiers 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:16049940 PMID:25741868 PMID:28492532 PMID:29093066 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
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 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
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 NCBI chr 3:89,431,973...89,457,999
Ensembl chr 3:89,432,037...89,458,340
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 More... NCBI chr 3:89,372,472...89,396,759
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: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 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 5:25,446,843...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 OMIM
ClinVar
PMID:25741868 PMID:26541337 PMID:29327420 PMID:29923093 PMID:30237576 NCBI chr16:19,213,914...19,251,990
Ensembl chr16:19,213,950...19,237,025
JBrowse link
renal tubular acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 susceptibility ISO
ISS
OMIM:179830 | OMIM:267200 | OMIM:602722 MouseDO
RGD
PMID:10973252 RGD:1599383 NCBI chr 4:66,760,159...66,842,110
Ensembl chr 4:66,760,159...66,842,110
JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 susceptibility ISO ClinVar Annotator: match by term: Renal tubular acidosis ClinVar
RGD
PMID:16611712 PMID:19364879 PMID:26571219 PMID:28188436 PMID:28492532 More... RGD:1599372 NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
JBrowse link
G Ctsb cathepsin B IEP protein:decreased activity:renal proximal tubule (rat) RGD PMID:7873730 RGD:2315534 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IEP mRNA:increased expression:adrenal gland (rat) RGD PMID:16495212 RGD:4891416 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO
IEP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Renal tubular acidosis
mRNA,protein:increased expression:kidney:
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A858D (human)
ClinVar
CTD
RGD
PMID:9312167 PMID:14734552 PMID:23460825 PMID:25741868 PMID:28492532 More... RGD:10450480, RGD:13208945, RGD:10450481 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Slc4a4 solute carrier family 4 member 4 susceptibility ISO DNA:point mutations: ; 1043A>C, 1678G>A
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18614622 PMID:10545938 RGD:61794 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
JBrowse link
Stomatocytosis II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:25741868 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 More... NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
JBrowse link
Succinyl-CoA:3-oxoacid CoA transferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oxct1 3-oxoacid CoA transferase 1 ISO ClinVar Annotator: match by term: Succinyl-CoA:3-oxoacid CoA transferase deficiency
ClinVar Annotator: match by term: 3-Oxoacid CoA Transferase Deficiency
ClinVar Annotator: match by OMIM:245050
OMIM
ClinVar
PMID:1405472 PMID:8751852 PMID:9392403 PMID:9536098 PMID:9671268 More... NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        Acid-Base Imbalance 92
          Achlorhydria 5
          Acidoses + 80
          Alkalosis + 4
          Stomatocytosis II 2
          overhydrated hereditary stomatocytosis 1
paths to the root