MCID: RNL007
MIFTS: 58

Renal Tubular Acidosis malady

Nephrological diseases category

Summaries for Renal Tubular Acidosis

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63Wikipedia, 32MalaCards
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Wikipedia:63 Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body... more...

MalaCards: Renal Tubular Acidosis, also known as acidosis renal tubular, is related to nephrocalcinosis and osteopetrosis. An important gene associated with Renal Tubular Acidosis is ATP6V1B1 (ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1), and among its related pathways are Multifunctional anion exchangers and O2/CO2 exchange in erythrocytes. The drugs citric acid and sodium bicarbonate and the compounds Methyclothiazide and u 104 have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and liver, and related mouse phenotypes are renal/urinary system and growth/size.

Aliases & Classifications for Renal Tubular Acidosis

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases


Aliases & Descriptions:

renal tubular acidosis 8 42 10 60
acidosis renal tubular 44
renal tubule acidosis 8


External Ids:

Disease Ontology8 DOID:14219
MeSH34 D000141
SNOMED-CT56 1776003
NCIt39 C28129

Related Diseases for Renal Tubular Acidosis

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17GeneCards, 18GeneDecks
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Diseases in the Renal Tubular Acidosis family:

Primary Renal Tubular Acidosis

Diseases related to Renal Tubular Acidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1nephrocalcinosis31.4ATP6V0A4, ATP6V1B1, SLC4A1, CA2
2osteopetrosis31.1TCIRG1, SLC4A2, DNAH8, CA2
3renal tubular acidosis, distal, autosomal recessive31.0ATP6V0A4, ATP6V1B1, SLC4A1
4metabolic acidosis30.9CA2, SCNN1G, ATP6AP1, ATP6V0A4, ATP6V1B1, SLC4A1
5renal tubular acidosis, distal30.8AMBP, CA2, ATP6V0A4, ATP6V1B1, DNAH8, SLC4A1
6nephrolithiasis30.7SLC26A6, SLC26A1
7arthritis30.5AMBP
8rheumatoid arthritis30.4AMBP, DNAH8
9glaucoma30.4CA14, SLC4A4, CA4, CA2
10primary hyperoxaluria30.4AMBP, DNAH8
11hereditary elliptocytosis30.4SLC4A2, SLC4A1
12renal tubular acidosis with deafness10.8
13osteomalacia10.7
14diabetes insipidus10.7
15nephrogenic diabetes insipidus10.6
16primary biliary cirrhosis10.6
17systemic lupus erythematosus10.6
18hypokalemic periodic paralysis10.6
19lupus erythematosus10.6
20renal tubular acidosis, distal, autosomal dominant10.6
21proximal renal tubular acidosis with ocular abnormalities10.6
22renal tubular acidosis, distal, ad10.6
23sensorineural hearing loss10.6
24cerebritis10.6
25fanconi syndrome10.6
26neuroaxonal dystrophy renal tubular acidosis10.6
27hyperparathyroidism10.5
28osteopetrosis, autosomal recessive 3, with renal tubular acidosis10.5
29sjogren's syndrome10.5
30hypothyroidism10.5
31respiratory failure10.5
32renal tubular acidosis, distal, type 310.5
33hypercalcemia10.4
34osteoporosis10.4
35diabetes mellitus10.4
36thyroiditis10.4
37primary hyperparathyroidism10.4
38cystinosis10.4
39hereditary spherocytosis10.4
40hepatitis10.4
41hyperthyroidism10.4
42renal tubular acidosis progressive nerve deafness10.4
43osteopetrosis with renal tubular acidosis10.4
44renal tubular acidosis, distal, with hemolytic anemia10.4
45renal tubular acidosis, distal, ar10.4
46hyperkalemic renal tubular acidosis10.4
47focal segmental glomerulosclerosis10.3
48urethritis10.3
49hypophosphatemia10.3
50hypoparathyroidism10.3

Graphical network of the top 20 diseases related to Renal Tubular Acidosis:



Diseases related to renal tubular acidosis

Clinical Features for Renal Tubular Acidosis

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Drugs & Therapeutics for Renal Tubular Acidosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Renal Tubular Acidosis

Drug clinical trials:

Search ClinicalTrials for Renal Tubular Acidosis

Search NIH Clinical Center for Renal Tubular Acidosis

Search CenterWatch for Renal Tubular Acidosis

Inferred drug relations via UMLS60/NDF-RT40:

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Genetic Tests for Renal Tubular Acidosis

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Anatomical Context for Renal Tubular Acidosis

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Renal Tubular Acidosis:

32
Kidney, Bone, Liver, Thyroid, Brain, Colon, Testes, Lung, Heart

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Renal Tubular Acidosis:
id TissueAnatomical CompartmentCell Relevance
1 KidneyProximal TubuleProximal Tubule Cells Potential therapeutic candidate, affected by disease

Animal Models for Renal Tubular Acidosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Renal Tubular Acidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536710.0SLC4A4, CA2, SCNN1G, ATP6V0A4, ATP6V1B1, SLC4A1
2MP:00053789.9CA2, CA4, SCNN1G, ATP6V0A4, SLC4A1, SLC4A2
3MP:00053769.6CA14, CA2, CA4, SCNN1G, ATP6V0A4, ATP6V1B1
4MP:00107689.4CA14, CA2, CA4, SCNN1G, ATP6AP1, ATP6V0A4

Publications for Renal Tubular Acidosis

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50PubMed
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Articles related to Renal Tubular Acidosis:

(show top 50)    (show all 563)
idTitleAuthorsYear
1
Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis. (23729491)
2013
2
A distal (type 1) renal tubular acidosis case that mimic coronary ischemia. (23906332)
2013
3
Type 3 renal tubular acidosis. (23439805)
2012
4
A distal renal tubular acidosis showing hyperammonemia and hyperlactacidemia. (23173413)
2012
5
Prevalence and densitometric characteristics of incomplete distal renal tubular acidosis in men with recurrent calcium nephrolithiasis. (21713545)
2012
6
Prevalence and risk factors of renal tubular acidosis after kidney transplantation. (22368897)
2011
7
Renal tubular acidosis associated with zonisamide therapy in a dog. (22092642)
2011
8
Clinical profile of distal renal tubular acidosis. (21422623)
2011
9
Tubulointerstitial nephritis and renal tubular acidosis of different types are rare but important complications of primary biliary cirrhosis. (20466658)
2010
10
A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype. (20960171)
2010
11
Diabetes mellitus and renal tubular acidosis in primary SjAPgren's syndrome. (21121214)
2010
12
Severe hypophosphatemic osteomalacia with Fanconi syndrome, renal tubular acidosis, vitamin D deficiency and primary biliary cirrhosis. (19252361)
2009
13
Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis. (19625994)
2009
14
G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. (18614622)
2008
15
Atypical presentation of distal renal tubular acidosis in two siblings. (18386070)
2008
16
Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand. (17533027)
2007
17
Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3- exchanger (slc4a1). (17409310)
2007
18
Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis. (17163544)
2007
19
Complete renal tubular acidosis late after kidney transplantation. (16644772)
2006
20
Proximal renal tubular acidosis. (16736440)
2006
21
The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia. (16707554)
2006
22
Medullary sponge kidney associated with distal renal tubular acidosis in a 5-year-old girl. (16602004)
2006
23
Autoantibodies against carbonic anhydrase II are increased in renal tubular acidosis associated with Sjogren syndrome. (15694905)
2005
24
Comparison of growth in primary Fanconi syndrome and proximal renal tubular acidosis. (15703948)
2005
25
Coeliac disease associated with SjAPgren's syndrome, renal tubular acidosis, primary biliary cirrhosis and autoimmune hyperthyroidism. (15285530)
2004
26
Distal renal tubular acidosis in mice that lack the forkhead transcription factor Foxi1. (15173882)
2004
27
Hypercalcemia and distal renal tubular acidosis: an association not only in the newborn. (12820054)
2003
28
Hyperoxaluria in patients with primary distal renal tubular acidosis. (12728365)
2003
29
Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis. (12081559)
2002
30
Recurrent life-threatening acidosis induced by acetazolamide in a patient with diabetic type IV renal tubular acidosis. (12140510)
2002
31
Hereditary distal renal tubular acidosis: new understandings. (11160790)
2001
32
Renal tubular acidosis in horses (1980-1999). (11300597)
2001
33
Renal tubular acidosis syndromes. (11095551)
2000
34
Renal tubular acidosis associated with zonisamide therapy. (11114225)
2000
35
Renal tubular acidosis and osteopetrosis. (10229010)
1999
36
Successful renal transplantation in 3 family members with type 1 renal tubular acidosis. (10524897)
1999
37
FK506 "rescue" therapy complicated by renal tubular acidosis in renal allograft recipients. (9838575)
1998
38
Dimercaptosuccinic acid distribution in renal tubular acidosis. (9505851)
1997
39
Thyrotoxicosis and renal tubular acidosis presenting as hypokalaemic paralysis. (8620307)
1996
40
Distal renal tubular acidosis and hypokalemic paralysis--genetic and precipitating factors. (9251363)
1996
41
Distal renal tubular acidosis associated with non-autoimmune hypothyroidism. (8671985)
1996
42
Newborn renal tubular acidosis associated with prenatal maternal toluene sniffing. (8811588)
1996
43
Familial cryptogenic fibrosing pleuritis with Fanconi's syndrome (renal tubular acidosis). A new syndrome. (7842801)
1995
44
Vanadate causes hypokalemic distal renal tubular acidosis. (1313645)
1992
45
Hypocitraturic and hypercalciuric renal tubular acidosis with nephrocalcinosis in a 4-year-old boy. (2127591)
1990
46
Pseudohypoaldosteronism type II: proximal renal tubular acidosis and dDAVP-sensitive renal hyperkalemia. (3777034)
1986
47
Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. (3925334)
1985
48
Idiopathic hypergammaglobulinaemia associated with nephrogenic diabetes insipidus and distal renal tubular acidosis. (6463004)
1984
49
Osteosclerosis in renal tubular acidosis: a case report. (617605)
1977
50
Fanconi syndrome with renal tubular acidosis and light chain proteinuria. (5155597)
1971

Genetic Variations for Renal Tubular Acidosis

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Expression for genes affiliated with Renal Tubular Acidosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Renal Tubular Acidosis

Search GEO for disease gene expression data for Renal Tubular Acidosis.

Pathways for genes affiliated with Renal Tubular Acidosis

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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Pathways related to Renal Tubular Acidosis according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3SLC26A6, SLC26A1
2
Hide members
10.3CA4, SLC4A1, CA2
310.3SLC4A4, CA4, CA2
410.3SLC4A1, SLC4A2, SLC4A4
510.3SLC4A4, SLC4A2, CA2
610.3SLC4A2, CA2, SLC4A4
7
Hide members
10.3CA14, CA2, CA4
810.2TCIRG1, ATP6AP1, ATP6V0A4, ATP6V0D1
910.2ATP6V0D1, ATP6V0A4, TCIRG1, ATP6AP1
10
Hide members
10.2SLC4A4, SLC4A1, SLC4A2, SLC26A6, SLC26A1
1110.0ATP6V0D1, ATP6V0A4, ATP6V1G3, ATP6V1G2, ATP6V1B1, TCIRG1
12
Hide members
10.0ATP6V0D1, ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V1B1, TCIRG1
1310.0ATP6V1G3, ATP6V1G2, ATP6V1B1, ATP6V0D1, SLC26A1, TCIRG1
149.9ATP6V1G2, ATP6AP1, ATP6V1G3, ATP6V0A4, ATP6V0D1, ATP6V1B1
159.9TCIRG1, ATP6V1G3, ATP6AP1, ATP6V0A4, ATP6V1G2, ATP6V0D1
16
Hide members
9.8ATP6AP1, ATP6V1G2, ATP6V0A4, ATP6V1G3, CA2, ATP6V0D1
17
Hide members
9.8ATP6AP1, ATP6V1G2, TCIRG1, MT-CO3, MT-ATP6, ATP6V1B1
18
Hide members
9.7ATP6V1B1, MT-ATP6, CA14, CA2, CA4, ATP6AP1
19
Hide members
9.6ATP6V0D1, SCNN1G, ATP6V1G3, ATP6V0A4, ATP6V1B1, SLC4A2

Compounds for genes affiliated with Renal Tubular Acidosis

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11DrugBank, 59Tocris Bioscience, 44Novoseek, 28IUPHAR, 24HMDB
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Compounds related to Renal Tubular Acidosis according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1Methyclothiazide1110.7CA2, CA4
2u 1045910.7CA2, CA4
3ethoxzolamide44 1111.7SLC4A4, CA4, CA2
4chlorothiazide28 1111.7CA4, CA2
5stilbene4410.7SLC4A2, SLC4A1
6sodium bicarbonate44 1111.7SLC4A4, CA4, CA2
7dids44 2811.7SLC4A1, SLC4A2, SLC4A4
8Benzthiazide1110.7CA2, CA4
9Trichlormethiazide1110.7CA2, CA4
10dorzolamide44 1111.7CA2, CA4
11ellagic acid44 59 1112.7CA14, CA2, CA4
12sulfonamide4410.6CA14, CA2, CA4
13brinzolamide44 1111.6CA2, CA4
14dichlorphenamide44 1111.6CA2, CA4
15zonisamide44 1111.6CA4, CA2, CA14
16acetazolamide44 1111.6CA14, CA2, CA4, SLC4A4
17bendroflumethiazide44 1111.6CA2, CA4
18Hydroflumethiazide1110.6CA4, CA2
19sulfate44 2411.6AMBP, SLC4A1, SLC4A2, SLC26A1
20naoh4410.6SLC4A1, AMBP
21methazolamide44 1111.6CA2, CA4
22amiloride44 28 1112.5SLC4A2, SCNN1G, CA2
23cyclothiazide28 44 1112.5CA4, CA2
24disulfiram44 59 1112.5ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1B1
25chloride4410.5CA2, CA4, SLC4A1, SLC4A2, SLC26A1, SLC4A4
26hydrogen44 2411.5CA2, CA4, MT-ATP6, DNAH8, SLC4A1
27oxalate4410.5SLC26A1, SLC4A1
28sodium44 2411.5AMBP, CA4, SCNN1G, SLC4A1, SLC4A2, SLC4A4
29concanamycin a44 5911.4ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1B1, DNAH8
30bafilomycin a144 59 1112.4ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1B1, DNAH8
31carbon dioxide44 2411.4CA14, CA2, CA4
32atp44 2811.4CA2, ATP6AP1, MT-ATP6, MT-CO3, DNAH8, SLC4A1
33bicarbonate4410.4SLC4A4, CA14, CA2, CA4, ATP6AP1, SLC4A1
34sodium dodecylsulfate4410.3CA4, CA2, AMBP
35oligomycin4410.3DNAH8, MT-ATP6
36Adenosine triphosphate11 2411.3ATP6AP1, ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1B1
37citrate4410.3SLC4A1, MT-CO3, CA2
38topiramate44 11 2412.3CA2, CA4
39adp44 28 2412.2ATP6AP1, ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1B1
40potassium44 11 2411.9SLC4A4, SLC4A1, ATP6AP1, AMBP

GO Terms for genes affiliated with Renal Tubular Acidosis

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16Gene Ontology
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Cellular components related to Renal Tubular Acidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proton-transporting V-type ATPase, V1 domainGO:03318010.3ATP6V1B1, ATP6AP1
2brush border membraneGO:03152610.3ATP6V0A4, CA4, SLC26A6
3vacuolar proton-transporting V-type ATPase complexGO:01647110.3ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1B1
4vacuolar proton-transporting V-type ATPase, V0 domainGO:00022010.3TCIRG1, ATP6V0A4
5basolateral plasma membraneGO:01632310.2SLC4A4, SLC26A6, SLC4A2, SLC4A1, CA4, ATP6V1B1
6apical plasma membraneGO:01632410.1SLC26A6, TCIRG1, ATP6V0D1, ATP6V0A4, SCNN1G, CA4
7phagocytic vesicle membraneGO:03067010.0ATP6V0A4, ATP6V0D1, TCIRG1
8plasma membraneGO:0058869.7SLC26A6, AMBP, SCNN1G, TCIRG1, SLC4A4, SLC26A1

Biological processes related to Renal Tubular Acidosis according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of dipeptide transmembrane transportGO:200115010.5CA2, SLC26A6
2angiotensin-mediated signaling pathwayGO:03816610.5SLC26A6, CA2
3chloride transportGO:00682110.5SLC4A1, SLC26A6, SLC26A1
4oxalate transportGO:01953210.4SLC26A1, SLC26A6
5excretionGO:00758810.4ATP6V0A4, ATP6V1B1, SCNN1G
6proton transportGO:01599210.4ATP6V0D1, ATP6V0A4, ATP6AP1, TCIRG1, ATP6V1B1
7ATP hydrolysis coupled proton transportGO:01599110.4TCIRG1, ATP6V1B1, ATP6V0D1, ATP6V0A4, ATP6AP1
8ion transportGO:00681110.4SLC26A6, SLC4A1, SLC4A4, SLC26A1, SLC4A2
9regulation of pHGO:00688510.4ATP6V1B1, ATP6V0A4
10regulation of intracellular pHGO:05145310.4CA2, SLC26A6
11transferrin transportGO:03357210.3ATP6V0A4, TCIRG1, ATP6V1B1, ATP6V0D1, ATP6V1G2, ATP6V1G3
12interaction with hostGO:05170110.3ATP6V1G3, TCIRG1, ATP6V1B1, ATP6V1G2, ATP6V0A4, ATP6V0D1
13bicarbonate transportGO:01570110.3SLC26A6, CA14, CA2, CA4, SLC4A1, SLC4A2
14phagosome maturationGO:09038210.3ATP6V0A4, ATP6V1G2, ATP6V0D1, TCIRG1, ATP6V1G3, ATP6V1B1
15cellular iron ion homeostasisGO:00687910.3TCIRG1, ATP6V1B1, ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V0D1
16insulin receptor signaling pathwayGO:00828610.3ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1B1, TCIRG1, ATP6V1G3
17anion transportGO:00682010.2SLC4A1, SLC4A2
18sulfate transportGO:00827210.0SLC26A1, SLC26A6
19transmembrane transportGO:05508510.0SCNN1G, ATP6V0A4, TCIRG1, SLC26A6, SLC4A4, SLC26A1

Molecular functions related to Renal Tubular Acidosis according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1anion:anion antiporter activityGO:01530110.5SLC26A1, SLC26A6, SLC4A1
2chloride transmembrane transporter activityGO:01510810.4SLC26A1, SLC26A6, SLC4A2, SLC4A1
3inorganic anion exchanger activityGO:00545210.4SLC4A1, SLC4A2, SLC4A4
4hydrogen-exporting ATPase activity, phosphorylative mechanismGO:00855310.4ATP6V1G3, ATP6V1G2, ATP6V0D1
5carbonate dehydratase activityGO:00408910.4CA14, CA2, CA4
6hydrogen ion transmembrane transporter activityGO:01507810.4ATP6V0A4, ATP6V1B1, TCIRG1
7oxalate transmembrane transporter activityGO:01953110.3SLC26A1, SLC26A6
8secondary active sulfate transmembrane transporter activityGO:00827110.3SLC26A6, SLC26A1
9anion transmembrane transporter activityGO:00850910.2SLC4A2, SLC4A1
10sulfate transmembrane transporter activityGO:01511610.0SLC26A1, SLC26A6

Products for genes affiliated with Renal Tubular Acidosis

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  • Antibodies
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Sources for Renal Tubular Acidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet