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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 chr11:2,469,750...2,874,467 JBrowse link
G TFF1 trefoil factor 1 ISO protein:increased secretion:stomach RGD PMID:11903739 RGD:2292010 NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270
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 chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842
JBrowse link
G AMT aminomethyltransferase ISO RGD PMID:3877504 RGD:1599107 NCBI chr 3:49,344,590...49,350,383
Ensembl chr 3:50,589,193...50,594,968
JBrowse link
G CLDN14 claudin 14 ISO mRNA:increased expression:duodenum RGD PMID:17383680 RGD:1600867 NCBI chr21:22,830,770...22,946,594
Ensembl chr21:36,187,306...36,188,025
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO protein:increased activity:liver (rat) RGD PMID:9472964 RGD:4144071 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO RGD PMID:6282936 RGD:2307324 NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29618784 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
JBrowse link
G OTC ornithine transcarbamylase ISO protein:increased activity:liver (rat) RGD PMID:9472964 RGD:4144071 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO mRNA:decreased expression:renal cortex (rat) RGD PMID:12388388 RGD:634144 NCBI chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637
JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO mRNA:decreased expression:kidney (mouse)
protein:altered expression:kidney, brush border membrane (rat)
RGD PMID:18535837 PMID:19439519 RGD:7242944 RGD:7242948 NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975
JBrowse link
G SLC6A14 solute carrier family 6 member 14 ISO mRNA:increased expression:jejunum RGD PMID:15300171 RGD:1625278 NCBI chr  X:105,496,347...105,521,217
Ensembl chr  X:115,912,873...115,939,693
JBrowse link
G SLC9A4 solute carrier family 9 member A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20484819 NCBI chr2A:99,280,738...99,341,618
Ensembl chr2A:103,566,128...103,626,975
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 chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
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 chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
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 7:142,646,413...142,663,376
Ensembl chr 7:154,799,256...154,815,919
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 ISO ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis OMIM
ClinVar
PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580
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 chr10:69,796,505...69,800,304
Ensembl chr10:72,255,326...72,259,172
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: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ClinVar PMID:25741868 NCBI chr12:31,108,569...31,129,307
Ensembl chr12:31,369,872...31,389,847
JBrowse link
Congenital Infantile Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100983712 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:25293719 PMID:25741868 NCBI chr19:6,919,469...6,921,359 JBrowse link
G PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:32581362 NCBI chr11:62,205,644...62,317,917
Ensembl chr11:65,527,662...65,551,396
JBrowse link
G PPP1R12B protein phosphatase 1 regulatory subunit 12B ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar NCBI chr 1:177,945,674...178,185,871
Ensembl chr 1:182,243,497...182,482,216
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: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 OMIM
ClinVar
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 More... NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
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 chr12:38,796,300...38,804,559
Ensembl chr12:39,690,289...39,698,397
JBrowse link
G INS insulin ISO CTD Direct Evidence: therapeutic CTD PMID:11430560 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
JBrowse link
G INSR insulin receptor ISO RGD PMID:15254588 RGD:1302526 NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
JBrowse link
G PAX4 paired box 4 susceptibility ISO ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to OMIM
ClinVar
PMID:15509590 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 7:119,605,924...119,613,579
Ensembl chr 7:132,260,859...132,268,516
JBrowse link
G SERPINA7 serpin family A member 7 ISO protein:decreased expression:serum RGD PMID:6768790 RGD:2312332 NCBI chr  X:95,163,842...95,169,230
Ensembl chr  X:105,541,475...105,548,132
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 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:12414817 PMID:25741868 PMID:29311258 PMID:31959358 NCBI chr 7:130,665,997...130,758,537
Ensembl chr 7:143,154,712...143,218,802
JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:9916796 PMID:12414817 PMID:16611712 PMID:16769747 PMID:18368028 More... NCBI chr2A:71,000,096...71,030,306
Ensembl chr2A:72,113,859...72,143,612
JBrowse link
G ATP6V1C2 ATPase H+ transporting V1 subunit C2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr2A:10,689,538...10,783,372
Ensembl chr2A:10,872,071...10,936,457
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 7:142,646,413...142,663,376
Ensembl chr 7:154,799,256...154,815,919
JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr15:32,449,840...32,695,815
Ensembl chr15:50,775,112...51,023,853
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: Distal Renal Tubular Acidosis, Dominant | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 1 OMIM
ClinVar
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
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 with progressive nerve deafness OMIM
ClinVar
PMID:9916796 PMID:12414817 PMID:12566520 PMID:12579397 PMID:16199547 More... NCBI chr2A:71,000,096...71,030,306
Ensembl chr2A:72,113,859...72,143,612
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: Distal Renal Tubular Acidosis, Recessive | ClinVar Annotator: match by term: RTA, distal, autosomal 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 OMIM
ClinVar
PMID:9536098 PMID:10973252 PMID:12414817 PMID:16611712 PMID:17576681 More... NCBI chr 7:130,665,997...130,758,537
Ensembl chr 7:143,154,712...143,218,802
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar PMID:25741868 NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
JBrowse link
G TMEM213 transmembrane protein 213 ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar NCBI chr 7:130,758,215...130,765,607
Ensembl chr 7:143,245,974...143,284,073
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, 4, with hemolytic anemia OMIM
ClinVar
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 More... NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:30028003 NCBI chr15:32,449,840...32,695,815
Ensembl chr15:50,775,112...51,023,853
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 term: Renal tubular acidosis, distal, with normal red cell morphology ClinVar PMID:15211439 NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100988698 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: GRACILE syndrome OMIM
ClinVar
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr2B:105,917,605...105,921,427
Ensembl chr2B:224,513,223...224,516,856
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: HUPRA SYNDROME | ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21255763 PMID:24034276 PMID:25741868 More... NCBI chr19:36,015,983...36,037,404
Ensembl chr19:44,565,214...44,568,594
Ensembl chr19:44,565,214...44,568,594
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 term: Hydrops, lactic acidosis, and sideroblastic anemia OMIM
ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994
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: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency OMIM
ClinVar
PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chr 4:33,787,804...33,806,289
Ensembl chr 4:39,639,960...39,657,805
JBrowse link
G RPL9 ribosomal protein L9 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,782,911...33,787,737
Ensembl chr 4:39,635,067...39,639,810
JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,827,532...33,856,204
Ensembl chr 4:39,681,300...39,708,215
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:16,432,822...16,506,668
Ensembl chr  X:23,806,477...23,880,518
JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:25741868 NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326
JBrowse link
G DNM1L dynamin 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376
JBrowse link
G LOC100974890 cytochrome b-c1 complex subunit Rieske, mitochondrial ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:31883641 NCBI chr19:26,139,335...26,145,231
Ensembl chr19:34,905,765...34,911,712
JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:25741868 PMID:33093004 NCBI chr 5:60,344,363...60,467,008
Ensembl chr 5:61,966,124...62,088,375
JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2537010 NCBI chr  X:11,967,944...11,985,837
Ensembl chr  X:19,330,508...19,348,443
JBrowse link
G PLAT plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:25331496 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
JBrowse link
G PYGL glycogen phosphorylase L ISO DNA:mutation:multiple RGD PMID:17705025 RGD:11071447 NCBI chr14:31,494,172...31,533,545
Ensembl chr14:49,746,309...49,832,786
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chr 8:98,854,101...98,890,365
Ensembl chr 8:101,019,699...101,052,056
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 ISO ClinVar Annotator: match by term: Metabolic acidosis ClinVar PMID:25741868 NCBI chr 8:81,854,390...81,905,728
Ensembl chr 8:83,463,434...83,526,899
JBrowse link
G DAB2 DAB adaptor protein 2 ISO protein:decreased expression:brush border membrane RGD PMID:22357915 RGD:7243154 NCBI chr 5:70,951,198...71,004,836
Ensembl chr 5:76,022,143...76,041,443
JBrowse link
G EDN1 endothelin 1 treatment ISO RGD PMID:17255858 RGD:1625312 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Metabolic acidosis ClinVar PMID:25741868 NCBI chr2A:26,240,365...26,285,982
Ensembl chr2A:26,334,043...26,379,059
JBrowse link
G KCNJ16 potassium inwardly rectifying channel subfamily J member 16 ISO compared to SS/JrHsdMcwi RGD PMID:30605394 RGD:38500203 NCBI chr17:64,005,085...64,065,153
Ensembl chr17:69,411,032...69,447,343
JBrowse link
G MYH9 myosin heavy chain 9 ISO protein:increased expression:brush border membrane RGD PMID:22357915 RGD:7243154 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
JBrowse link
G RHCG Rh family C glycoprotein ISO protein:increased expression:medulla, kidney collecting duct intercalated cell RGD PMID:16144966 RGD:8554685 NCBI chr15:68,165,708...68,190,964
Ensembl chr15:87,372,238...87,397,011
JBrowse link
G SLC38A3 solute carrier family 38 member 3 treatment ISO RGD PMID:16954343 RGD:9999224 NCBI chr 3:50,133,631...50,149,394
Ensembl chr 3:51,367,939...51,383,657
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 chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
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 OMIM
ClinVar
PMID:17287286 PMID:17668387 PMID:19526370 PMID:20197121 PMID:20453710 More... NCBI chr2A:84,476,814...84,512,920
Ensembl chr2A:86,035,723...86,066,622
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 OMIM
ClinVar
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:34782754 NCBI chr 7:100,456,096...100,511,836
Ensembl chr 7:113,177,202...113,230,799
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 OMIM
ClinVar
PMID:12649063 PMID:22628558 PMID:25741868 NCBI chr 6:164,331,604...164,349,747 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 | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal dominant | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal recessive OMIM
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:115,555,561...115,600,302
Ensembl chr 1:124,755,250...124,800,032
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 OMIM
ClinVar
PMID:18296749 PMID:18304497 PMID:19567699 PMID:19846308 PMID:20206689 More... NCBI chr12:106,132,987...106,140,879
Ensembl chr12:109,529,162...109,537,053
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 9 deficiency OMIM
ClinVar
PMID:7599230 PMID:16199547 PMID:17564966 PMID:20816094 PMID:20929961 More... NCBI chr 3:125,941,278...125,974,847
Ensembl chr 3:133,298,753...133,331,883
JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:20929961 PMID:21057504 PMID:22499348 PMID:25721401 PMID:27233227 More... NCBI chr 3:125,971,881...126,061,778 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 OMIM
ClinVar
PMID:1174702 PMID:2765409 PMID:2917122 PMID:13762977 PMID:18931342 More... NCBI chr 6:49,174,973...49,206,667
Ensembl chr 6:50,436,307...50,468,250
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: RTA, PROXIMAL, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:10545938 PMID:11274232 PMID:18658147 PMID:20197274 PMID:21234596 More... NCBI chr 4:52,659,221...52,994,053
Ensembl chr 4:59,002,200...59,385,608
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:11,610,278...11,747,059
Ensembl chr  X:18,973,638...19,054,159
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:11,047,357...11,261,172
Ensembl chr  X:18,492,329...18,638,735
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 PMID:28492532 NCBI chr  X:11,984,867...12,137,090
Ensembl chr  X:19,346,814...19,518,249
JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 More... NCBI chr  X:11,967,944...11,985,837
Ensembl chr  X:19,330,508...19,348,443
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 chr11:34,889,242...34,968,886
Ensembl chr11:34,764,450...34,844,166
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:11,513,747...11,605,382
Ensembl chr  X:18,877,476...18,968,730
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:11,311,905...11,448,676
Ensembl chr  X:18,675,714...18,812,412
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:11,259,222...11,282,289
Ensembl chr  X:18,624,687...18,657,315
JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:28492532 NCBI chr  X:12,154,789...12,511,949
Ensembl chr  X:19,517,952...19,822,931
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 OMIM
ClinVar
PMID:9536098 PMID:16049940 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr11:106,910,857...106,950,851
Ensembl chr11:110,756,001...110,792,795
JBrowse link
G PIH1D2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:9536098 PMID:16049940 PMID:17576681 PMID:28492532 NCBI chr11:106,938,450...106,960,535
Ensembl chr11:110,798,074...110,804,506
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 chr11:34,855,437...34,889,486
Ensembl chr11:34,730,671...34,764,732
JBrowse link
G PDHX pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency OMIM
ClinVar
PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 More... NCBI chr11:34,889,242...34,968,886
Ensembl chr11:34,764,450...34,844,166
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:25741868 PMID:28492532 NCBI chr 3:58,359,753...58,366,094
Ensembl chr 3:59,776,618...59,782,411
JBrowse link
G PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency OMIM
ClinVar
PMID:15855260 PMID:19184109 PMID:25741868 PMID:31392110 NCBI chr 8:90,541,269...90,550,554
Ensembl chr 8:92,486,271...92,494,714
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 chr19:18,501,567...18,550,368
Ensembl chr19:19,504,325...19,553,158
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 DNA:nonsense,deletion,splice-site
ClinVar Annotator: match by term: Distal renal tubular acidosis
RGD
ClinVar
PMID:10973252 PMID:12414817 PMID:25741868 PMID:29311258 PMID:31959358 RGD:1599383 NCBI chr 7:130,665,997...130,758,537
Ensembl chr 7:143,154,712...143,218,802
JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 susceptibility ISO DNA:mutation;associated with Hearing Loss, Sensorineural
ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis
RGD
ClinVar
PMID:9916796 PMID:12414817 PMID:16611712 PMID:16769747 PMID:18368028 More... RGD:1599372 NCBI chr2A:71,000,096...71,030,306
Ensembl chr2A:72,113,859...72,143,612
JBrowse link
G ATP6V1C2 ATPase H+ transporting V1 subunit C2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr2A:10,689,538...10,783,372
Ensembl chr2A:10,872,071...10,936,457
JBrowse link
G CTSB cathepsin B ISO protein:decreased activity:renal proximal tubule (rat) RGD PMID:7873730 RGD:2315534 NCBI chr 8:7,333,498...7,359,264 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 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis ClinVar PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 7:142,646,413...142,663,376
Ensembl chr 7:154,799,256...154,815,919
JBrowse link
G SLC4A4 solute carrier family 4 member 4 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:point mutations: ; 1043A>C, 1678G>A
CTD
RGD
PMID:10545938 PMID:18614622 RGD:61794 NCBI chr 4:52,659,221...52,994,053
Ensembl chr 4:59,002,200...59,385,608
JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr15:32,449,840...32,695,815
Ensembl chr15:50,775,112...51,023,853
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 chr19:40,715,621...40,735,025
Ensembl chr19:49,321,403...49,335,900
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 chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
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: 3-Oxoacid CoA Transferase Deficiency | ClinVar Annotator: match by term: Succinyl-CoA:3-oxoacid CoA transferase deficiency OMIM
ClinVar
PMID:1405472 PMID:8751852 PMID:9392403 PMID:9536098 PMID:9671268 More... NCBI chr 5:68,528,765...68,668,305
Ensembl chr 5:73,563,758...73,710,316
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14521
    Nutritional and Metabolic Diseases 5542
      disease of metabolism 5542
        Acid-Base Imbalance 84
          Achlorhydria 2
          Acidoses + 77
          Alkalosis + 4
          Stomatocytosis II 2
          overhydrated hereditary stomatocytosis 1
paths to the root