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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


show annotations for term's descendants           Sort by:
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: CA2-related condition | 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 | ClinVar Annotator: match by term: MRPS16-related condition OMIM
ClinVar		 PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 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
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | ClinVar Annotator: match by term: TSFM-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17033963 PMID:17576681 PMID:20435138 More... NCBI chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595
Ensembl chr12:31,404,783...31,415,595 		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:28492532 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
G STXBP2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:25293719 PMID:25741868 NCBI chr19:6,926,833...6,937,385
Ensembl chr19:7,781,830...7,792,038 		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: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | 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
G SLC26A3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to ClinVar PMID:8968745 PMID:9934985 PMID:28492532 NCBI chr 7:99,747,405...99,776,763
Ensembl chr 7:112,470,041...112,507,671 		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 | ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to ClinVar
OMIM		 PMID:9536098 PMID:15509590 PMID:17576681 PMID:18414213 PMID:25741868 More... 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:25285676 PMID:25741868 PMID:26787776 PMID:28188436 More... 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 | ClinVar Annotator: match by term: RTA, distal type, autosomal dominant
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 | ClinVar Annotator: match by term: RTA, distal type, autosomal dominant | ClinVar Annotator: match by term: Renal Tubular Acidosis, Type I		 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: ATP6V1B1-related condition | ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness OMIM
ClinVar		 PMID:8651253 PMID:9536098 PMID:9916796 PMID:12414817 PMID:12566520 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 ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss ClinVar PMID:25741868 NCBI chr2A:71,000,096...71,030,306
Ensembl chr2A:72,113,859...72,143,612 		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 PMID:28492532 PMID:35738466 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 PMID:25741868 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 CCBE1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:25741868 NCBI chr18:52,819,591...53,087,772
Ensembl chr18:56,149,036...56,412,222 		JBrowse link
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 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:25741868 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 SARS1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:111,590,850...111,615,068
Ensembl chr 1:110,755,054...110,779,704 		JBrowse link
G SARS2 seryl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME | ClinVar Annotator: match by term: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | ClinVar Annotator: match by term: SARS2-related condition 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
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 | ClinVar Annotator: match by term: LARS2-related condition OMIM
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 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 APBB2 amyloid beta precursor protein binding family B member 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:35,133,490...35,538,443
Ensembl chr 4:40,988,428...41,189,064 		JBrowse link
G CHRNA9 cholinergic receptor nicotinic alpha 9 subunit ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:34,654,043...34,675,984
Ensembl chr 4:40,509,475...40,528,869 		JBrowse link
G FAM114A1 family with sequence similarity 114 member A1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,195,907...33,274,081
Ensembl chr 4:39,049,619...39,127,656 		JBrowse link
G KLB klotho beta ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,736,350...33,780,309
Ensembl chr 4:39,588,702...39,632,480 		JBrowse link
G KLHL5 kelch like family member 5 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,372,076...33,452,745
Ensembl chr 4:39,243,639...39,301,418 		JBrowse link
G LIAS lipoic acid synthetase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: LIAS-related condition | 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 LIMCH1 LIM and calponin homology domains 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:35,685,904...36,025,582
Ensembl chr 4:41,533,560...41,873,694 		JBrowse link
G N4BP2 NEDD4 binding protein 2 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:34,380,215...34,482,797
Ensembl chr 4:40,253,199...40,336,040 		JBrowse link
G NSUN7 NOP2/Sun RNA methyltransferase family member 7 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:35,071,093...35,131,207
Ensembl chr 4:40,922,714...40,982,315 		JBrowse link
G PDS5A PDS5 cohesin associated factor A ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:34,149,622...34,303,065
Ensembl chr 4:40,002,869...40,156,698 		JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:36,070,924...36,074,532
Ensembl chr 4:41,919,742...41,922,449 		JBrowse link
G RBM47 RNA binding motif protein 47 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:34,744,484...34,951,402
Ensembl chr 4:40,597,366...40,640,599 		JBrowse link
G RFC1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,618,590...33,695,999
Ensembl chr 4:39,471,719...39,548,548 		JBrowse link
G RHOH ras homolog family member H ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:34,517,487...34,569,934
Ensembl chr 4:40,419,549...40,420,124 		JBrowse link
G RPL9 ribosomal protein L9 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 4:33,782,911...33,787,737
Ensembl chr 4:39,635,067...39,639,810 		JBrowse link
G SMIM14 small integral membrane protein 14 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,875,253...33,967,498
Ensembl chr 4:39,731,488...39,819,160 		JBrowse link
G TLR1 toll like receptor 1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,119,485...33,133,541
Ensembl chr 4:38,979,006...38,981,366 		JBrowse link
G TLR10 toll like receptor 10 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,100,588...33,111,750
Ensembl chr 4:38,955,660...38,958,095 		JBrowse link
G TLR6 toll like receptor 6 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,153,151...33,174,053
Ensembl chr 4:39,009,103...39,011,490 		JBrowse link
G TMEM156 transmembrane protein 156 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,294,287...33,360,117
Ensembl chr 4:39,149,096...39,214,112 		JBrowse link
G UBE2K ubiquitin conjugating enzyme E2 K ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:34,026,942...34,111,923
Ensembl chr 4:39,877,966...39,960,397 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:35,580,755...35,592,314
Ensembl chr 4:41,428,759...41,440,129 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chr 4:33,827,532...33,856,204
Ensembl chr 4:39,681,300...39,708,215 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES ClinVar PMID:28492532 NCBI chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903 		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:24954817 PMID:25741868 PMID:34483339 PMID:34954817 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 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | ClinVar Annotator: match by term: SUCLG1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17287286 PMID:17576681 PMID:17668387 More... NCBI chr2A:84,476,814...84,512,920
Ensembl chr2A:86,035,723...86,066,622 		JBrowse link
G SUCLG2 succinate-CoA ligase GDP-forming subunit beta ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 ClinVar NCBI chr 3:67,277,348...67,563,181
Ensembl chr 3:68,647,738...68,931,891 		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 Annotator: match by term: PNPLA8-related condition OMIM
ClinVar		 PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 More... 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: MPC1-related condition | ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency OMIM
ClinVar		 PMID:12649063 PMID:22628558 PMID:25741868 PMID:28492532 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:25390740 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: ISCU-related condition | 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: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency OMIM
ClinVar		 PMID:7599230 PMID:9536098 PMID:16199547 PMID:17564966 PMID:17576681 More... NCBI chr 3:125,941,278...125,974,847
Ensembl chr 3:133,298,753...133,331,883 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:19777577 PMID:22241855 PMID:22425360 PMID:23012439 PMID:25741868 More... NCBI chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:16909394 PMID:17345604 PMID:20690115 PMID:21866095 PMID:25741868 More... NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20929961 PMID:21057504 More... NCBI chr 3:125,971,881...126,061,778 JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20		 ClinVar PMID:20301500 PMID:22425360 PMID:22693042 PMID:24178751 PMID:25407461 More... NCBI chr 5:73,122,305...73,265,343
Ensembl chr 5:78,402,466...78,544,807 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:25741868 PMID:26072516 NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:8655135 PMID:9562578 PMID:11499718 PMID:12881443 PMID:12951062 More... NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:15542397 PMID:19105186 PMID:19877282 PMID:24016303 PMID:25741868 More... NCBI chr 6:42,554,509...42,570,701
Ensembl chr 6:43,850,129...43,865,355 		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: RHAG-related condition OMIM
ClinVar		 PMID:19831342 PMID:21859730 PMID:23967154 PMID:25741868 PMID:28492532 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: PROXIMAL RENAL TUBULAR ACIDOSIS-OCULAR ANOMALY SYNDROME | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: SLC4A4-related condition OMIM
ClinVar		 PMID:10545938 PMID:11274232 PMID:15085340 PMID:15471865 PMID:15713912 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:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:11,610,278...11,747,059
Ensembl chr  X:18,973,638...19,054,159 		JBrowse link
G BCLAF3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:12,537,084...12,609,183
Ensembl chr  X:19,899,762...19,949,483 		JBrowse link
G BEND2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:10,786,031...10,844,265
Ensembl chr  X:18,151,097...18,208,838 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:11,047,357...11,261,172
Ensembl chr  X:18,492,329...18,638,735 		JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:12,743,907...12,764,313
Ensembl chr  X:20,103,872...20,123,464 		JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:11,984,867...12,137,090
Ensembl chr  X:19,346,814...19,518,249 		JBrowse link
G MAP7D2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:12,624,994...12,736,318
Ensembl chr  X:19,989,048...20,096,192 		JBrowse link
G NHS NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:9,988,584...10,359,110
Ensembl chr  X:17,358,416...17,728,178 		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:9837815 PMID:10679936 PMID:14564667 PMID:17172462 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:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:11,311,905...11,448,676
Ensembl chr  X:18,675,714...18,812,412 		JBrowse link
G RAI2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:10,423,258...10,484,740 JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:12,772,368...12,893,062
Ensembl chr  X:20,133,898...20,251,244 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9618178 PMID:9837815 PMID:10679936 PMID:14564667 PMID:17172462 More... NCBI chr  X:11,259,222...11,282,289
Ensembl chr  X:18,624,687...18,657,315 		JBrowse link
G SCML1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:10,360,555...10,378,123
Ensembl chr  X:17,736,355...17,745,591 		JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... NCBI chr  X:10,862,608...10,977,851
Ensembl chr  X:18,226,256...18,344,155 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:19414485 More... 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 ALG9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,659,847...106,757,451
Ensembl chr11:110,511,860...110,601,179 		JBrowse link
G BCO2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:107,056,525...107,105,358
Ensembl chr11:110,899,703...110,942,547 		JBrowse link
G BTG4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,374,407...106,394,341
Ensembl chr11:110,219,490...110,236,589 		JBrowse link
G C9H11orf52 chromosome 9 C11orf52 homolog ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,805,449...106,813,628
Ensembl chr11:110,649,474...110,657,531 		JBrowse link
G CFAP68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,764,776...106,772,501
Ensembl chr11:110,608,823...110,614,652 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272 		JBrowse link
G DIXDC1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,813,905...106,908,898
Ensembl chr11:110,657,803...110,753,114 		JBrowse link
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:20022530 More... NCBI chr11:106,910,857...106,950,851
Ensembl chr11:110,756,001...110,792,795 		JBrowse link
G FDXACB1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,759,471...106,764,721
Ensembl chr11:110,603,654...110,609,074 		JBrowse link
G HOATZ HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,394,354...106,419,546
Ensembl chr11:110,238,843...110,263,946 		JBrowse link
G HSPB2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,798,674...106,800,861
Ensembl chr11:110,642,933...110,644,893 		JBrowse link
G IL18 interleukin 18 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371 		JBrowse link
G LAYN layilin ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,423,134...106,443,237
Ensembl chr11:110,267,762...110,287,935 		JBrowse link
G NKAPD1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,960,669...106,971,584
Ensembl chr11:110,804,481...110,815,338 		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:25741868 PMID:28492532 NCBI chr11:106,938,450...106,960,535
Ensembl chr11:110,798,074...110,804,506 		JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,231,870...106,258,822
Ensembl chr11:110,078,850...110,103,996 		JBrowse link
G POU2AF3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,178,653...106,188,354
Ensembl chr11:110,023,207...110,033,060 		JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,609,754...106,651,811
Ensembl chr11:110,465,475...110,495,908 		JBrowse link
G PTS 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:107,107,114...107,114,594
Ensembl chr11:110,949,708...110,957,599 		JBrowse link
G SIK2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,484,913...106,613,711
Ensembl chr11:110,329,237...110,453,543 		JBrowse link
G TEX12 testis expressed 12 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:107,048,417...107,053,655
Ensembl chr11:110,817,016...110,896,829 		JBrowse link
G TIMM8B translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar PMID:28492532 NCBI chr11:106,971,579...106,973,226
Ensembl chr11:110,815,333...110,816,980 		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 PMID:25741868 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: PDHX-related condition | 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: PDP1-related condition | ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency OMIM
ClinVar		 PMID:15855260 PMID:19184109 PMID:25741868 PMID:28492532 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 | ClinVar Annotator: match by term: SLC25A42-related condition OMIM
ClinVar		 PMID:25741868 PMID:26541337 PMID:28492532 PMID:29327420 PMID:29923093 More... 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:25285676 PMID:25741868 PMID:26787776 More... 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
OMIM:179830 | OMIM:267200 | OMIM:602722
DNA:point mutations: ; 1043A>C, 1678G>A		 CTD
MouseDO
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 (Er blood group) ISO ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 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 15833
    Nutritional and Metabolic Diseases 7496
      disease of metabolism 7496
        Acid-Base Imbalance 146
          Achlorhydria 2
          Acidoses + 138
          Alkalosis + 5
          Stomatocytosis II 2
          overhydrated hereditary stomatocytosis 1
paths to the root