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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 chrNW_004936794:707,122...994,206 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 chrNW_004936528:8,005,223...8,007,586 JBrowse link
G Amt aminomethyltransferase ISO RGD PMID:3877504 RGD:1599107 NCBI chrNW_004936529:1,049,364...1,054,458 JBrowse link
G Cldn14 claudin 14 ISO mRNA:increased expression:duodenum RGD PMID:17383680 RGD:1600867 NCBI chrNW_004936500:6,207,856...6,227,582 JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO protein:increased activity:liver (rat) RGD PMID:9472964 RGD:4144071 NCBI chrNW_004936586:5,739,038...5,850,317 JBrowse link
G LOC101978323 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO RGD PMID:6282936 RGD:2307324 NCBI chrNW_004936646:1,899,686...1,904,104 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29618784 NCBI chrNW_004936509:6,589,967...6,621,171 JBrowse link
G Otc ornithine transcarbamylase ISO protein:increased activity:liver (rat) RGD PMID:9472964 RGD:4144071 NCBI chrNW_004936502:5,234,253...5,291,891 JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO mRNA:decreased expression:renal cortex (rat) RGD PMID:12388388 RGD:634144 NCBI chrNW_004936479:16,435,779...16,483,139 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:18535837 PMID:19439519 RGD:7242944 RGD:7242948 NCBI chrNW_004936597:1,667,700...1,684,533 JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO mRNA:increased expression:jejunum RGD PMID:15300171 RGD:1625278 NCBI chrNW_004936479:13,024,831...13,051,908 JBrowse link
G Slc9a4 solute carrier family 9 member A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20484819 NCBI chrNW_004936713:1,134,059...1,186,145 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 chrNW_004936484:19,713,299...19,721,144 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 chrNW_004936541:718,577...727,420 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 chrNW_004936527:6,485,566...6,499,901 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 chrNW_004936544:362,591...379,151 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 chrNW_004936521:5,785,819...5,787,402 JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar PMID:25741868 NCBI chrNW_004936646:1,930,447...1,952,069 JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 | ClinVar Annotator: match by term: ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS OMIM
ClinVar		 PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 More... NCBI chrNW_004936646:1,919,326...1,936,694 JBrowse link
Congenital Infantile Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101966343 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:25293719 PMID:25741868 NCBI chrNW_004936588:4,680,083...4,681,563 JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar PMID:32581362 NCBI chrNW_004936599:2,677,770...2,793,033 JBrowse link
G Ppp1r12b protein phosphatase 1 regulatory subunit 12B ISO ClinVar Annotator: match by term: Congenital lactic acidosis ClinVar NCBI chrNW_004936567:1,992,487...2,208,611 JBrowse link
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Maple syrup urine disease, type 3 OMIM
ClinVar		 PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 More... NCBI chrNW_004936479:16,247,230...16,271,597 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 chrNW_004936512:7,628,677...7,633,344 JBrowse link
G Ins insulin ISO CTD Direct Evidence: therapeutic CTD PMID:11430560 NCBI chrNW_004936816:1,002,137...1,003,357 JBrowse link
G Insr insulin receptor ISO RGD PMID:15254588 RGD:1302526 NCBI chrNW_004936588:4,345,306...4,453,380 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 chrNW_004936479:14,807,503...14,812,575 JBrowse link
G Serpina7 serpin family A member 7 ISO protein:decreased expression:serum RGD PMID:6768790 RGD:2312332 NCBI chrNW_004936499:8,568,309...8,573,764 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 chrNW_004936592:3,039,911...3,083,610 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 chrNW_004936491:15,112,422...15,138,716 JBrowse link
G Atp6v1c2 ATPase H+ transporting V1 subunit C2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chrNW_004936532:6,818,387...6,866,691 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 chrNW_004936541:718,577...727,420 JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chrNW_004936527:6,485,566...6,499,901 JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chrNW_004936471:15,233,828...15,416,415 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 chrNW_004936541:718,577...727,420 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 chrNW_004936491:15,112,422...15,138,716 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 chrNW_004936592:3,039,911...3,083,610 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 chrNW_004936541:718,577...727,420 JBrowse link
G Tmem213 transmembrane protein 213 ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar NCBI chrNW_004936592:3,106,340...3,111,583 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 OMIM
ClinVar		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 More... NCBI chrNW_004936541:718,577...727,420 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 chrNW_004936471:15,233,828...15,416,415 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 chrNW_004936541:718,577...727,420 JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101961358 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 chrNW_004936569:1,104,493...1,108,708 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 chrNW_004936661:1,861,646...1,871,707 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 chrNW_004936695:353,965...492,014 JBrowse link
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lias lipoic acid synthetase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency OMIM
ClinVar		 PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 More... NCBI chrNW_004936482:7,068,326...7,085,571 JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chrNW_004936482:7,063,294...7,068,235 JBrowse link
G Ugdh UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency ClinVar PMID:28492532 NCBI chrNW_004936482:7,090,241...7,118,315 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 ISO ClinVar Annotator: match by term: Ketosis ClinVar PMID:25741868 NCBI chrNW_004936470:8,126,677...8,139,556 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 chrNW_004936624:667,659...754,944 JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:25741868 NCBI chrNW_004936517:743,036...752,836 JBrowse link
G Dnm1l dynamin 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chrNW_004936607:3,576,357...3,632,423 JBrowse link
G LOC101959727 cytochrome b-c1 complex subunit Rieske, mitochondrial ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:31883641 NCBI chrNW_004936570:6,044,969...6,051,046 JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Lactic acidosis ClinVar PMID:25741868 PMID:33093004 NCBI chrNW_004936480:13,829,093...13,932,202 JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2537010 NCBI chrNW_004936844:889,720...906,631 JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:25331496 NCBI chrNW_004936785:476,200...503,371 JBrowse link
G Pygl glycogen phosphorylase L ISO DNA:mutation:multiple RGD PMID:17705025 RGD:11071447 NCBI chrNW_004936495:14,692,688...14,728,663 JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138848 NCBI chrNW_004936470:41,354,387...41,401,308 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 chrNW_004936544:246,797...257,798 JBrowse link
G Dab2 DAB adaptor protein 2 ISO protein:decreased expression:brush border membrane RGD PMID:22357915 RGD:7243154 NCBI chrNW_004936518:2,915,819...2,936,474 JBrowse link
G Edn1 endothelin 1 treatment ISO RGD PMID:17255858 RGD:1625312 NCBI chrNW_004936534:885,489...892,292 JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Metabolic acidosis ClinVar PMID:25741868 NCBI chrNW_004936493:6,139,717...6,182,792 JBrowse link
G Kcnj16 potassium inwardly rectifying channel subfamily J member 16 ISO compared to SS/JrHsdMcwi RGD PMID:30605394 RGD:38500203 NCBI chrNW_004936655:3,487,071...3,489,686 JBrowse link
G Myh9 myosin heavy chain 9 ISO protein:increased expression:brush border membrane RGD PMID:22357915 RGD:7243154 NCBI chrNW_004936492:4,384,215...4,466,229 JBrowse link
G Rhcg Rh family C glycoprotein ISO protein:increased expression:medulla, kidney collecting duct intercalated cell RGD PMID:16144966 RGD:8554685 NCBI chrNW_004936483:15,329,147...15,353,301 JBrowse link
G Slc38a3 solute carrier family 38 member 3 treatment ISO RGD PMID:16954343 RGD:9999224 NCBI chrNW_004936529:1,749,919...1,765,885 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 chrNW_004936541:718,577...727,420 JBrowse link
mitochondrial DNA depletion syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) OMIM
ClinVar		 PMID:17287286 PMID:17668387 PMID:19526370 PMID:20197121 PMID:20453710 More... NCBI chrNW_004936650:3,278,769...3,313,537 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 chrNW_004936653:1,470,314...1,499,813 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 chrNW_004936489:16,179,321...16,181,991 JBrowse link
Monocarboxylate Transporter 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101966363 monocarboxylate transporter 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 NCBI chrNW_004936690:1,448,289...1,461,525 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 chrNW_004936769:492,024...498,587 JBrowse link
nuclear type mitochondrial complex I deficiency 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of OMIM
ClinVar		 PMID:7599230 PMID:16199547 PMID:17564966 PMID:20816094 PMID:20929961 More... NCBI chrNW_004936798:83,952...106,381 JBrowse link
G Cfap92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of ClinVar PMID:20929961 PMID:21057504 PMID:22499348 PMID:25721401 PMID:27233227 More... NCBI chrNW_004936798:107,074...144,373 JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ClinVar PMID:19574547 PMID:24093860 PMID:25741868 PMID:28492532 PMID:30297972 NCBI chrNW_004936562:1,871,194...1,890,092 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 chrNW_004936476:11,081,631...11,106,636 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 chrNW_004936598:3,391,587...3,713,629 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 chrNW_004936844:552,729...619,429 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 chrNW_004936844:101,815...271,254 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 chrNW_004936844:905,249...958,946 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 chrNW_004936844:889,720...906,631 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 chrNW_004936533:3,153,461...3,215,891 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 chrNW_004936844:478,773...548,565 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 chrNW_004936844:316,889...444,043 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 chrNW_004936844:284,938...314,524 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 chrNW_004936624:4,327,100...4,616,724 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 chrNW_004936612:2,395,452...2,437,592 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 chrNW_004936612:2,382,172...2,389,877 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 LOC101975600 APAF1 interacting protein ISO ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar NCBI chrNW_004936533:3,216,020...3,238,999 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 chrNW_004936533:3,153,461...3,215,891 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 chrNW_004936473:2,580,642...2,586,266 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 chrNW_004936544:7,008,882...7,017,446 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 chrNW_004936596:2,290,375...2,319,449 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 chrNW_004936592:3,039,911...3,083,610 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 chrNW_004936491:15,112,422...15,138,716 JBrowse link
G Atp6v1c2 ATPase H+ transporting V1 subunit C2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chrNW_004936532:6,818,387...6,866,691 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 chrNW_004936541:718,577...727,420 JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chrNW_004936527:6,485,566...6,499,901 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 chrNW_004936598:3,391,587...3,713,629 JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chrNW_004936471:15,233,828...15,416,415 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 chrNW_004936706:940,585...952,484 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 chrNW_004936641:932,291...980,440 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 chrNW_004936518:924,840...1,057,201 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13536
    Nutritional and Metabolic Diseases 5326
      disease of metabolism 5326
        Acid-Base Imbalance 84
          Achlorhydria 1
          Acidoses + 78
          Alkalosis + 4
          Stomatocytosis II 2
          overhydrated hereditary stomatocytosis 1
paths to the root