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, Heart, Lung, Testes

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
A Rare Case of Congenital Distal Renal Tubular Acidosis Combined with Medullary Sponge Kidney. (23860485)
2013
2
Successful treatment of osteomalacia caused by renal tubular acidosis associated with SjAPgren's syndrome. (22740247)
2013
3
Hypokalemic paralysis in a girl with dental and renal calculi. Distal renal tubular acidosis (RTA). (22850714)
2013
4
Distal renal tubular acidosis associated with non-autoimmune hypothyroidism. (22805408)
2012
5
Medullary nephrocalcinosis, distal renal tubular acidosis and polycythaemia in a patient with nephrotic syndrome. (22834973)
2012
6
Sjogren's syndrome with distal renal tubular acidosis presenting as hypokalaemic paralysis. (23087292)
2012
7
Systemic lupus erythematosus associated with type 4 renal tubular acidosis: a case report and review of the literature. (21435204)
2011
8
Renal tubular acidosis due to Wilson's disease presenting as metabolic bone disease. (22688476)
2011
9
Acidosis with hyperuricemia and renal tubular damage in viral gastroenteritis. (21922212)
2011
10
Prevalence of sensitization to inhaled and food allergens in a group of children with primary renal tubular acidosis. (21967967)
2011
11
Clinical outcome of children with primary distal renal tubular acidosis. (22145505)
2011
12
Deletion of hensin/DMBT1 blocks conversion of beta- to alpha-intercalated cells and induces distal renal tubular acidosis. (21098262)
2010
13
Nephrocalcinosis in a patient with complete distal renal tubular acidosis. (20954471)
2010
14
Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report. (19830120)
2009
15
Combined renal tubular acidosis and diabetes insipidus in hematological disease. (17322929)
2007
16
Immunohistochemical comparison of a case of inherited distal renal tubular acidosis (with a unique AE1 mutation) with an acquired case secondary to autoimmune disease. (17205967)
2007
17
Diagnosis of distal renal tubular acidosis: use of furosemide plus fludrocortisone versus ammonium chloride. (17724487)
2007
18
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. (16611712)
2006
19
Bone disease in primary biliary cirrhosis: lack of association with distal renal tubular acidosis. (15610460)
2005
20
Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosis. (14736961)
2004
21
Defects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosis. (15067510)
2004
22
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. (12566520)
2003
23
Acute lymphoblastic leukemia presenting with lactic acidosis and renal tubular dysfunction. (12794529)
2003
24
ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. (12500243)
2003
25
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population. (12938018)
2003
26
Subclinical renal tubular acidosis in patients with primary and secondary SjAPgren's syndrome: a possible marker of disease progression. (24383999)
2002
27
Distal renal tubular acidosis associated with isolated large vestibular aqueduct and sensorineural hearing loss. (12018321)
2002
28
Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis. (12384298)
2002
29
Inherited distal renal tubular acidosis. (12138152)
2002
30
Reduced Tc-99m DMSA uptake in a patient with renal tubular acidosis: effect of acid-base imbalance. (12508844)
2002
31
Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis. (11435462)
2001
32
Distal renal tubular acidosis with severe hypokalaemia, probably caused by colonic H(+)-K(+)-ATPase deficiency. (11369570)
2001
33
New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies. (11045400)
2000
34
Autosomal dominant distal renal tubular acidosis and the AE1 gene. (10352215)
1999
35
Hyperkalemic renal tubular acidosis. (10216701)
1998
36
Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency. (9630052)
1998
37
SjAPgren's syndrome presenting with hypokalemic paralysis due to renal tubular acidosis. (17341953)
1998
38
Hypokalaemic paralysis associated with renal tubular acidosis. (10750415)
1997
39
Mitochondrial cytopathies and renal tubular acidosis. (9203200)
1997
40
The spectrum of endemic renal tubular acidosis in the northeast of Thailand. (8938678)
1996
41
Primary distal renal tubular acidosis as a result of a gradient defect. (8604714)
1996
42
Trimethoprim-sulfamethoxazole-induced renal tubular acidosis in a patient with AIDS. (7620045)
1995
43
Type IV renal tubular acidosis and spironolactone therapy in the elderly. (8290440)
1993
44
Urinary N-acetyl-beta-D-glucosaminidase activity in a girl with distal renal tubular acidosis. (1499592)
1992
45
A case of Hashimoto's thyroiditis associated with renal tubular acidosis, SjAPgren syndrome and empty sella syndrome]. (1468597)
1992
46
Osteomalacia secondary to renal tubular acidosis in a patient with primary SjAPgren's syndrome. (1764843)
1991
47
Distal renal tubular acidosis in selective hypoaldosteronism. (715490)
1978
48
Inactive form of erythrocyte carbonic anhydrase B in patients with primary renal tubular acidosis. (99456)
1978
49
Medullary sponge kidney with renal tubular acidosis: a report of 3 cases. (5839561)
1965
50
(PINK DISEASE AND PRIMARY RENAL TUBULAR ACIDOSIS.) (14231213)
1964

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
110.3SLC26A1, SLC26A6
2
Hide members
10.3SLC4A1, CA4, CA2
310.3SLC4A4, CA4, CA2
410.3SLC4A1, SLC4A2, SLC4A4
510.3SLC4A4, SLC4A2, CA2
610.3CA2, SLC4A2, SLC4A4
7
Hide members
10.3CA4, CA2, CA14
810.2ATP6AP1, ATP6V0A4, ATP6V0D1, TCIRG1
910.2ATP6AP1, ATP6V0A4, ATP6V0D1, TCIRG1
10
Hide members
10.2SLC4A1, SLC4A2, SLC26A6, SLC26A1, SLC4A4
1110.0ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1B1, TCIRG1
12
Hide members
10.0ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1B1, TCIRG1
1310.0ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1B1, SLC26A1
149.9ATP6AP1, ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1B1
159.9ATP6AP1, ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1B1
16
Hide members
9.8TCIRG1, SLC4A1, ATP6V1B1, ATP6V0D1, ATP6V1G2, ATP6V0A4
17
Hide members
9.8ATP6AP1, ATP6V1G3, ATP6V0A4, ATP6V1G2, ATP6V0D1, ATP6V1B1
18
Hide members
9.7CA14, CA2, CA4, ATP6AP1, ATP6V1G3, ATP6V0A4
19
Hide members
9.6TCIRG1, SCNN1G, ATP6V1G3, SLC4A4, SLC26A1, SLC26A6

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:03152610.3CA4, ATP6V0A4, SLC26A6
3vacuolar proton-transporting V-type ATPase complexGO:01647110.3ATP6V1B1, ATP6V0D1, ATP6V1G2, ATP6V0A4, ATP6V1G3
4vacuolar proton-transporting V-type ATPase, V0 domainGO:00022010.3TCIRG1, ATP6V0A4
5basolateral plasma membraneGO:01632310.2CA2, CA4, ATP6V1B1, SLC4A1, SLC4A2, SLC26A6
6apical plasma membraneGO:01632410.1CA4, SCNN1G, ATP6V0A4, ATP6V0D1, ATP6V1B1, SLC26A6
7phagocytic vesicle membraneGO:03067010.0TCIRG1, ATP6V0D1, ATP6V0A4
8plasma membraneGO:0058869.7AMBP, CA14, CA2, CA4, SCNN1G, ATP6V1G3

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

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1anion:anion antiporter activityGO:01530110.5SLC4A1, SLC26A6, SLC26A1
2chloride transmembrane transporter activityGO:01510810.4SLC26A1, SLC26A6, SLC4A2, SLC4A1
3inorganic anion exchanger activityGO:00545210.4SLC4A4, SLC4A2, SLC4A1
4carbonate dehydratase activityGO:00408910.4CA14, CA2, CA4
5hydrogen-exporting ATPase activity, phosphorylative mechanismGO:00855310.4ATP6V1G3, ATP6V1G2, ATP6V0D1
6hydrogen ion transmembrane transporter activityGO:01507810.4TCIRG1, ATP6V1B1, ATP6V0A4
7oxalate transmembrane transporter activityGO:01953110.3SLC26A6, SLC26A1
8sulfate transmembrane transporter activityGO:01511610.3SLC26A1, SLC26A6
9anion transmembrane transporter activityGO:00850910.2SLC4A1, SLC4A2
10secondary active sulfate transmembrane transporter activityGO:00827110.0SLC26A1, 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