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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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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 ISO DNA:deletion:exon (rat) RGD PMID:16368876 RGD:1581602 NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G TFF1 trefoil factor 1 ISO protein:increased secretion:stomach RGD PMID:11903739 RGD:2292010 NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535
JBrowse link
G TLR9 toll like receptor 9 IAGP DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) RGD PMID:20038537 RGD:5130741 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
Acidoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADM adrenomedullin ISO associated with Hemorrhage RGD PMID:17255858 RGD:1625312 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G AMT aminomethyltransferase ISO RGD PMID:3877504 RGD:1599107 NCBI chr 3:49,416,778...49,422,473
Ensembl chr 3:49,416,778...49,422,685
JBrowse link
G CLDN14 claudin 14 ISO mRNA:increased expression:duodenum RGD PMID:17383680 RGD:1600867 NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO protein:increased activity:liver (rat) RGD PMID:9472964 RGD:4144071 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO RGD PMID:6282936 RGD:2307324 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29618784 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,227,595...177,392,697
JBrowse link
G OTC ornithine transcarbamylase ISO protein:increased activity:liver (rat) RGD PMID:9472964 RGD:4144071 NCBI chr  X:38,352,604...38,421,446
Ensembl chr  X:38,352,586...38,421,446
JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO mRNA:decreased expression:renal cortex (rat) RGD PMID:12388388 RGD:634144 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO protein:altered expression:kidney, brush border membrane (rat)
mRNA:decreased expression:kidney (mouse)
RGD PMID:19439519 PMID:18535837 RGD:7242944, RGD:7242948 NCBI chr 5:177,384,434...177,412,021
Ensembl chr 5:177,379,235...177,398,848
JBrowse link
G SLC6A14 solute carrier family 6 member 14 ISO mRNA:increased expression:jejunum RGD PMID:15300171 RGD:1625278 NCBI chr  X:116,436,606...116,461,458
Ensembl chr  X:116,436,606...116,461,458
JBrowse link
G SLC9A4 solute carrier family 9 member A4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20484819 NCBI chr 2:102,473,226...102,533,972
Ensembl chr 2:102,473,226...102,533,972
JBrowse link
Alkalosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen EXP CTD Direct Evidence: therapeutic CTD PMID:7182184 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO mRNA,protein:decreased expression:kidney: RGD PMID:10600930 RGD:13208945 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO associated with Hypercalcemia;protein:decreased expression:kidney outer medulla inner stripe RGD PMID:17367404 RGD:9999377 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526
JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA2 carbonic anhydrase 2 IAGP ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis ClinVar
OMIM
PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
JBrowse link
G CA3-AS1 CA3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis ClinVar PMID:25741868 NCBI chr 8:85,441,806...85,464,915
Ensembl chr 8:85,440,596...85,464,915
JBrowse link
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC9-AS1 DNAJC9 and MRPS16 antisense RNA 1 IAGP ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 ClinVar PMID:15505824 NCBI chr10:73,247,367...73,276,984
Ensembl chr10:73,247,360...73,276,984
JBrowse link
G MRPS16 mitochondrial ribosomal protein S16 IAGP ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 OMIM
ClinVar
PMID:15505824 NCBI chr10:73,248,849...73,252,644
Ensembl chr10:73,248,843...73,252,693
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 IAGP ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar PMID:25741868 NCBI chr12:57,797,380...57,818,734
Ensembl chr12:57,797,376...57,818,734
JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
ClinVar
OMIM
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 More... NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071
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 IAGP ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:32581362 NCBI chr11:66,848,420...66,958,383
Ensembl chr11:66,848,417...66,958,386
JBrowse link
G PET100 PET100 cytochrome c oxidase chaperone IAGP ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:25293719 PMID:25741868 NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,793...7,631,956
JBrowse link
G PPP1R12B protein phosphatase 1 regulatory subunit 12B IAGP ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar NCBI chr 1:202,348,699...202,592,702
Ensembl chr 1:202,348,699...202,592,706
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 IAGP ClinVar Annotator: match by term: LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO
ClinVar Annotator: match by term: Maple syrup urine disease, type 3
ClinVar Annotator: match by term: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
ClinVar
OMIM
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 More... NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730
JBrowse link
diabetic ketoacidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP2 aquaporin 2 IEP RGD PMID:12021537 RGD:2314345 NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878
JBrowse link
G INS insulin EXP CTD Direct Evidence: therapeutic CTD PMID:11430560 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G INSR insulin receptor ISO RGD PMID:15254588 RGD:1302526 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G PAX4 paired box 4 susceptibility IAGP ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to ClinVar
OMIM
PMID:15509590 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142
JBrowse link
G SERPINA7 serpin family A member 7 IEP protein:decreased expression:serum RGD PMID:6768790 RGD:2312332 NCBI chr  X:106,032,435...106,038,727
Ensembl chr  X:106,032,435...106,038,727
JBrowse link
Distal 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 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:12414817 PMID:25741868 PMID:29311258 PMID:31959358 NCBI chr 7:138,706,294...138,798,196
Ensembl chr 7:138,706,294...138,799,560
JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:9916796 PMID:12414817 PMID:16611712 PMID:16769747 PMID:18368028 More... NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
JBrowse link
G ATP6V1C2 ATPase H+ transporting V1 subunit C2 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 2:10,720,943...10,785,110
Ensembl chr 2:10,721,100...10,785,110
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G SLC4A2 solute carrier family 4 member 2 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526
JBrowse link
G WDR72 WD repeat domain 72 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878
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) IAGP 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: Distal Renal Tubular Acidosis, Dominant
ClinVar Annotator: match by term: Renal Tubular Acidosis, Type I
ClinVar
OMIM
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
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 IAGP ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness ClinVar
OMIM
PMID:9916796 PMID:12414817 PMID:12566520 PMID:12579397 PMID:16199547 More... NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
JBrowse link
G ATP6V1B1-AS1 ATP6V1B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:70,942,013...70,948,611
Ensembl chr 2:70,941,817...70,948,610
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 IAGP ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive
ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing
ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
ClinVar Annotator: match by term: Renal tubular acidosis, distal, autosomal recessive
ClinVar
OMIM
PMID:9536098 PMID:10973252 PMID:12414817 PMID:16611712 PMID:17576681 More... NCBI chr 7:138,706,294...138,798,196
Ensembl chr 7:138,706,294...138,799,560
JBrowse link
G LOC123956241 Sharpr-MPRA regulatory region 1249 IAGP ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar NCBI chr 7:138,797,964...138,798,258 JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO
IAGP
ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar
RGD
PMID:25741868 PMID:17409310 RGD:13208934 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G TMEM213 transmembrane protein 213 IAGP ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive
ClinVar Annotator: match by term: Renal tubular acidosis, distal, autosomal recessive
ClinVar NCBI chr 7:138,797,994...138,806,759
Ensembl chr 7:138,797,952...138,838,101
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) IAGP ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia
ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA
ClinVar
OMIM
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 More... NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G WDR72 WD repeat domain 72 IAGP ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia ClinVar PMID:30028003 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878
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) IAGP ClinVar Annotator: match by term: Renal tubular acidosis, distal, with normal red cell morphology ClinVar PMID:15211439 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
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 IAGP ClinVar Annotator: match by term: GRACILE syndrome ClinVar
OMIM
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443
JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: neonatal lactic acidosis ClinVar PMID:25741868 PMID:32313153 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
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 IAGP ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
ClinVar Annotator: match by term: HUPRA SYNDROME
DNA:missense mutation:CDS:p.D390G (human)
ClinVar
OMIM
RGD
PMID:9536098 PMID:17576681 PMID:21255763 PMID:24034276 PMID:25741868 More... RGD:41410777 NCBI chr19:38,915,266...38,930,763
Ensembl chr19:38,915,266...38,930,763
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 IAGP 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 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726
JBrowse link
G LARS2-AS1 LARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 3:45,482,695...45,509,545
Ensembl chr 3:45,483,974...45,509,545
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 IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
ClinVar
OMIM
PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chr 4:39,459,056...39,479,506
Ensembl chr 4:39,459,004...39,485,109
JBrowse link
G LOC112939935 Sharpr-MPRA regulatory region 11886 IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 4:39,458,869...39,459,163 JBrowse link
G RPL9 ribosomal protein L9 IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931
JBrowse link
G UGDH UDP-glucose 6-dehydrogenase IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311
JBrowse link
Ketosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPLAH 5-oxoprolinase, ATP-hydrolysing IAGP ClinVar Annotator: match by term: Ketosis ClinVar PMID:25741868 NCBI chr 8:144,050,322...144,063,961
Ensembl chr 8:144,051,266...144,063,965
JBrowse link
lactic acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOO apolipoprotein O IAGP ClinVar Annotator: match by term: Lactic acidosis ClinVar NCBI chr  X:23,833,353...23,907,938
Ensembl chr  X:23,833,353...23,907,938
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:25741868 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
JBrowse link
G DNM1L dynamin 1 like EXP CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Seizures and lactic acidosis ClinVar PMID:8739943 PMID:12915481 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ClinVar Annotator: match by term: Seizures and lactic acidosis ClinVar PMID:8739943 PMID:12915481 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISS MouseDO NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17018649 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:25741868 PMID:33093004 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338
JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:2537010 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718
JBrowse link
G PLAT plasminogen activator, tissue type EXP CTD Direct Evidence: therapeutic CTD PMID:25331496 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
JBrowse link
G PYGL glycogen phosphorylase L IAGP DNA:mutation:multiple RGD PMID:17705025 RGD:11071447 NCBI chr14:50,905,217...50,944,483
Ensembl chr14:50,857,891...50,944,483
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B EXP CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 IAGP ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:31883641 NCBI chr19:29,205,320...29,213,151
Ensembl chr19:29,205,320...29,213,151
JBrowse link
metabolic acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA1 carbonic anhydrase 1 IAGP ClinVar Annotator: match by term: Metabolic acidosis ClinVar PMID:25741868 NCBI chr 8:85,327,608...85,378,113
Ensembl chr 8:85,327,608...85,379,014
JBrowse link
G DAB2 DAB adaptor protein 2 ISO protein:decreased expression:brush border membrane RGD PMID:22357915 RGD:7243154 NCBI chr 5:39,371,677...39,424,980
Ensembl chr 5:39,371,675...39,462,300
JBrowse link
G EDN1 endothelin 1 treatment ISO RGD PMID:17255858 RGD:1625312 NCBI chr 6:12,256,484...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta IAGP ClinVar Annotator: match by term: Metabolic acidosis ClinVar PMID:25741868 NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465
JBrowse link
G KCNJ16 potassium inwardly rectifying channel subfamily J member 16 ISO compared to SS/JrHsdMcwi RGD PMID:30605394 RGD:38500203 NCBI chr17:70,075,225...70,135,608
Ensembl chr17:70,053,429...70,135,608
JBrowse link
G MYH9 myosin heavy chain 9 ISO protein:increased expression:brush border membrane RGD PMID:22357915 RGD:7243154 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
JBrowse link
G RHCG Rh family C glycoprotein ISO protein:increased expression:medulla, kidney collecting duct intercalated cell RGD PMID:16144966 RGD:8554685 NCBI chr15:89,471,407...89,496,583
Ensembl chr15:89,471,398...89,496,589
JBrowse link
G SLC38A3 solute carrier family 38 member 3 treatment ISO RGD PMID:16954343 RGD:9999224 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO protein:increased expression:renal cortex, renal medulla (rat) RGD PMID:19439519 RGD:7242944 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
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 IAGP ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) ClinVar
OMIM
PMID:17287286 PMID:17668387 PMID:19526370 PMID:20197121 PMID:20453710 More... NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045
JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: Exercise intolerance, muscle pain, and lactic acidemia ClinVar PMID:9778262 PMID:14605505 PMID:16199753 PMID:20064630 PMID:31965079 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
JBrowse link
G PNPLA8 patatin like phospholipase domain containing 8 IAGP ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis ClinVar
OMIM
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:34782754 NCBI chr 7:108,470,417...108,528,178
Ensembl chr 7:108,470,417...108,569,666
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 IAGP ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency ClinVar
OMIM
PMID:12649063 PMID:22628558 PMID:25741868 NCBI chr 6:166,364,919...166,382,940
Ensembl chr 6:166,364,919...166,383,013
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 IAGP ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency
ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal recessive
ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal dominant
OMIM
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:112,911,847...112,956,196
Ensembl chr 1:112,911,847...112,957,593
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 IAGP ClinVar Annotator: match by term: Myopathy with lactic acidosis, hereditary ClinVar
OMIM
PMID:18296749 PMID:18304497 PMID:19567699 PMID:19846308 PMID:20206689 More... NCBI chr12:108,561,463...108,569,384
Ensembl chr12:108,562,582...108,569,368
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 IAGP
EXP
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:7599230 PMID:16199547 PMID:17564966 PMID:20816094 PMID:20929961 More... NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003
JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) IAGP 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 3:128,909,873...129,026,748
Ensembl chr 3:128,909,866...129,002,690
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 IAGP ClinVar Annotator: match by term: Stomatocytosis I
ClinVar Annotator: match by term: Overhydrated hereditary stomatocytosis
ClinVar
OMIM
PMID:1174702 PMID:2765409 PMID:2917122 PMID:13762977 PMID:18931342 More... NCBI chr 6:49,605,175...49,636,839
Ensembl chr 6:49,605,175...49,636,839
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 IAGP ClinVar Annotator: match by term: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
ClinVar Annotator: match by term: RTA, PROXIMAL, AUTOSOMAL RECESSIVE
ClinVar
OMIM
PMID:10545938 PMID:11274232 PMID:18658147 PMID:20197274 PMID:21234596 More... NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087
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 IAGP 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:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637
JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP 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:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629
JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:19,360,059...19,515,508
Ensembl chr  X:19,360,056...19,515,508
JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP 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:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718
JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591
JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP 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:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114
JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 IAGP 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:18,675,067...18,827,917
Ensembl chr  X:18,675,909...18,827,921
JBrowse link
G RS1 retinoschisin 1 IAGP 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:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108
JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:28492532 NCBI chr  X:19,533,977...19,887,600
Ensembl chr  X:19,533,977...19,887,600
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 IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar
OMIM
PMID:9536098 PMID:16049940 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,408...112,064,404
JBrowse link
G PIH1D2 PIH1 domain containing 2 IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:9536098 PMID:16049940 PMID:17576681 PMID:28492532 NCBI chr11:112,052,485...112,074,017
Ensembl chr11:112,063,218...112,074,274
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 IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar NCBI chr11:34,882,295...34,916,379
Ensembl chr11:34,853,094...34,916,379
JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase e3-binding protein deficiency
ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency
ClinVar
OMIM
PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 More... NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591
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 IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:58,427,630...58,433,832
Ensembl chr 3:58,427,630...58,433,857
JBrowse link
G PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 IAGP ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency ClinVar
OMIM
PMID:15855260 PMID:19184109 PMID:25741868 PMID:31392110 NCBI chr 8:93,916,923...93,926,068
Ensembl chr 8:93,857,807...93,926,068
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 IAGP 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 chr19:19,063,994...19,113,030
Ensembl chr19:19,063,994...19,113,030
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 IAGP
ISS
IEA
DNA:nonsense,deletion,splice-site
ClinVar Annotator: match by term: Distal renal tubular acidosis
OMIM:179830 | OMIM:267200 | OMIM:602722
ClinVar
MouseDO
RGD
PMID:12414817 PMID:25741868 PMID:29311258 PMID:31959358 PMID:10973252 RGD:1599383 NCBI chr 7:138,706,294...138,798,196
Ensembl chr 7:138,706,294...138,799,560
JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 susceptibility IAGP DNA:mutation;associated with Hearing Loss, Sensorineural
ClinVar Annotator: match by term: Distal renal tubular acidosis
ClinVar Annotator: match by term: Renal tubular acidosis
ClinVar
RGD
PMID:9916796 PMID:12414817 PMID:16611712 PMID:16769747 PMID:18368028 More... RGD:1599372 NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
JBrowse link
G ATP6V1C2 ATPase H+ transporting V1 subunit C2 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 2:10,720,943...10,785,110
Ensembl chr 2:10,721,100...10,785,110
JBrowse link
G CTSB cathepsin B ISO protein:decreased activity:renal proximal tubule (rat) RGD PMID:7873730 RGD:2315534 NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO mRNA:increased expression:adrenal gland (rat) RGD PMID:16495212 RGD:4891416 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 ISO mRNA:increased expression:adrenal gland (rat) RGD PMID:16495212 RGD:4891416 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP
EXP
ISO
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Renal tubular acidosis
ClinVar Annotator: match by term: Distal renal tubular acidosis
CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:kidney:
DNA:missense mutation:cds:p.A858D (human)
ClinVar
CTD
RGD
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... RGD:10450480, RGD:13208945, RGD:10450481 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G SLC4A2 solute carrier family 4 member 2 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526
JBrowse link
G SLC4A4 solute carrier family 4 member 4 susceptibility IAGP
EXP
DNA:point mutations: ; 1043A>C, 1678G>A
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18614622 PMID:10545938 RGD:61794 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087
JBrowse link
G WDR72 WD repeat domain 72 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878
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 IAGP ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:25741868 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
JBrowse link
G LOC100289580 uncharacterized LOC100289580 IAGP ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:25741868 PMID:28492532 PMID:28716860 NCBI chr16:88,731,180...88,741,425 JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 IAGP ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 More... NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220
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 LOC121725203 Sharpr-MPRA regulatory region 14195 IAGP ClinVar Annotator: match by term: 3-Oxoacid CoA Transferase Deficiency ClinVar PMID:28492532 NCBI chr 5:41,794,507...41,794,801 JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 IAGP ClinVar Annotator: match by term: 3-Oxoacid CoA Transferase Deficiency
ClinVar Annotator: match by term: Succinyl-CoA:3-oxoacid CoA transferase deficiency
ClinVar Annotator: match by term: SUCCINYL-CoA:3-KETOACID CoA-TRANSFERASE DEFICIENCY
ClinVar
OMIM
PMID:1405472 PMID:8751852 PMID:9392403 PMID:9536098 PMID:9671268 More... NCBI chr 5:41,730,065...41,870,425
Ensembl chr 5:41,730,065...41,870,425
JBrowse link
G OXCT1-AS1 OXCT1 antisense RNA 1 IAGP ClinVar Annotator: match by term: 3-Oxoacid CoA Transferase Deficiency
ClinVar Annotator: match by term: Succinyl-CoA:3-oxoacid CoA transferase deficiency
ClinVar PMID:23757202 PMID:28492532 NCBI chr 5:41,870,030...41,872,241
Ensembl chr 5:41,869,927...41,872,241
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21669
    Nutritional and Metabolic Diseases 7358
      disease of metabolism 7358
        Acid-Base Imbalance 102
          Achlorhydria 3
          Acidoses + 93
          Alkalosis + 4
          Stomatocytosis II 3
          overhydrated hereditary stomatocytosis 1
paths to the root