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MCID: RNL007
MIFTS: 51

Renal Tubular Acidosis

Categories: Rare diseases, Nephrological diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Renal Tubular Acidosis

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MalaCards integrated aliases for Renal Tubular Acidosis:

Name: Renal Tubular Acidosis 37 12 72 49 28 14 69
Acidosis, Renal Tubular 41
Acidosis Renal Tubular 51

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:14219
ICD10 32 N25.89
MeSH 41 D000141
NCIt 46 C28129
SNOMED-CT 64 1776003
UMLS 69 C0001126
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Summaries for Renal Tubular Acidosis

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Disease Ontology : 12 A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine.

MalaCards based summary : Renal Tubular Acidosis, also known as acidosis, renal tubular, is related to renal tubular acidosis, distal, autosomal recessive and renal tubular acidosis, distal. An important gene associated with Renal Tubular Acidosis is ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. The drugs Amphotericin B and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and bone, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia : 72 Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body... more...

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Related Diseases for Renal Tubular Acidosis

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Diseases in the Renal Tubular Acidosis family:

Renal Tubular Acidosis Iii

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

(show top 50) (show all 202)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, autosomal recessive 34.3 ATP6V0A4 ATP6V1B1 SLC4A1
2 renal tubular acidosis, distal 33.9 ATP6V0A4 ATP6V1B1 CA2 SLC4A1
3 medullary sponge kidney 30.9 ATP6V0A4 ATP6V1B1
4 metabolic acidosis 29.2 ATP6V0A4 ATP6V1B1 CA2 SLC4A1 SLC4A4 SLC9A3
5 renal tubular acidosis, distal, autosomal dominant 12.7
6 renal tubular acidosis, distal, with progressive nerve deafness 12.7
7 slc4a1-associated distal renal tubular acidosis 12.7
8 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 12.6
9 renal tubular acidosis, distal, with hemolytic anemia 12.6
10 renal tubular acidosis, proximal 12.5
11 osteopetrosis, autosomal recessive 3 12.3
12 renal tubular acidosis, distal, type 3 12.2
13 renal tubular acidosis iii 12.2
14 neuroaxonal dystrophy renal tubular acidosis 12.2
15 renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies 12.1
16 renal tubular acidosis, distal, type 4 12.1
17 autosomal dominant proximal renal tubular acidosis 12.1
18 nephrocalcinosis 11.6
19 lowe oculocerebrorenal syndrome 11.2
20 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
21 say syndrome 11.0
22 dent disease 2 11.0
23 glomerulopathy with fibronectin deposits 2 11.0
24 amelogenesis imperfecta hypoplastic type, ig 11.0
25 branchiootic syndrome 1 10.5
26 osteopetrosis 10.4
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
28 osteomalacia 10.4
29 sjogren syndrome 10.4
30 diabetes insipidus 10.3
31 fanconi syndrome 10.3
32 biliary cirrhosis, primary, 1 10.3
33 diabetes insipidus, nephrogenic, autosomal 10.3
34 elliptocytosis 2 10.3
35 systemic lupus erythematosus 10.3
36 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
37 primary biliary cirrhosis 10.3
38 lupus erythematosus 10.3
39 hypokalemic periodic paralysis, type 1 10.3
40 sensorineural hearing loss 10.3
41 cerebritis 10.3
42 ovalocytosis, southeast asian 10.3
43 hypothyroidism 10.3
44 cohen-gibson syndrome 10.2
45 nephrolithiasis 10.2
46 hyperparathyroidism 10.2
47 blood group, i system 10.2
48 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.2
49 apnea, obstructive sleep 10.2 REN SLC4A1
50 carbonic anhydrase va deficiency, hyperammonemia due to 10.1

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



Diseases related to Renal Tubular Acidosis
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Symptoms & Phenotypes for Renal Tubular Acidosis

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MGI Mouse Phenotypes related to Renal Tubular Acidosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 SLC4A4 ATP6V1B1 CA2 SLC4A7 SLC9A3 NR3C2
2 growth/size/body region MP:0005378 9.86 SLC4A1 ATP6V0A4 SLC4A4 CA2 NR3C2 OCRL
3 mortality/aging MP:0010768 9.61 ATP6V0A4 SLC4A4 CA2 SLC4A7 NR3C2 OCRL
4 renal/urinary system MP:0005367 9.36 SLC4A4 ATP6V1B1 CA2 SLC9A3 NR3C2 OCRL
Sources

Drugs & Therapeutics for Renal Tubular Acidosis

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Drugs for Renal Tubular Acidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amphotericin B Approved, Investigational Phase 4 1397-89-3 5280965 14956
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
4 diuretics Phase 4
5 Natriuretic Agents Phase 4
6 Anti-Bacterial Agents Phase 4
7 Antifungal Agents Phase 4
8 Anti-Infective Agents Phase 4
9 Antiparasitic Agents Phase 4
10 Antiprotozoal Agents Phase 4
11 Diuretics, Potassium Sparing Phase 4
12 Hormone Antagonists Phase 4
13 Hormones Phase 4
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
15 Liposomal amphotericin B Phase 4
16 Mineralocorticoid Receptor Antagonists Phase 4
17 Mineralocorticoids Phase 4
18 Bone Density Conservation Agents Phase 2, Phase 3
19 Calcium, Dietary Phase 2, Phase 3
20
Acetazolamide Approved, Vet_approved 59-66-5 1986
21
Potassium Citrate Approved, Investigational, Vet_approved
22
Fludrocortisone Approved, Investigational 127-31-1 31378
23
Furosemide Approved, Vet_approved 54-31-9 3440
24
Topiramate Approved 97240-79-4 5284627
25
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
26 Antibodies
27 calcitonin
28 Immunoglobulins
29 Anticoagulants
30 Anticonvulsants
31 Carbonic Anhydrase Inhibitors
32 Chelating Agents
33 Expectorants
34 Respiratory System Agents
35 Anti-Inflammatory Agents
36 Sodium Potassium Chloride Symporter Inhibitors
37 Anti-Obesity Agents
38 Neuroprotective Agents
39 Protective Agents
40 Citrate Nutraceutical

Interventional clinical trials:

(show all 12)

# Name Status NCT ID Phase Drugs
1 Use of Spironolactone for the Prevention of Electrolyte Abnormalities in Patients Treated With Amphotericin B Terminated NCT01843309 Phase 4 Spironolactone 100mg;Spironolactone 200mg;Placebo
2 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
3 Renal Tubular Acidosis in Incident Renal Transplant Recipients Unknown status NCT01283880
4 Genetic and Morphological Analysis of Thyrotoxic Periodic Paralysis Unknown status NCT02287363
5 Renal Tubular Acidosis is Highly Prevalent in Critically Ill Patients Completed NCT02392091
6 A Study Of Mircera In Patients With Kidney Disease Who Are Not On Dialysis Completed NCT02490514
7 Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance Completed NCT02979106
8 Effects of Potassium Citrate in Urine of Children With Elevated Calcium in Urine and Kidney Stones Completed NCT00120731 Potassium Citrate;Acetazolamide
9 Influence of Polymorphisms in the ATP6V1 Gene of the V-ATPase on the Development of Incomplete Distal Renal Tubular Acidosis Recruiting NCT01690039 Furosemide-Fludrocortisone-Test (test for urinary acidification)
10 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital Not yet recruiting NCT03268460
11 Use of Sodium Bicarbonate in Patients Treated With Topiramate Not yet recruiting NCT03354507
12 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305

Search NIH Clinical Center for Renal Tubular Acidosis

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: acidosis, renal tubular

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Genetic Tests for Renal Tubular Acidosis

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Genetic tests related to Renal Tubular Acidosis:

# Genetic test Affiliating Genes
1 Renal Tubular Acidosis 28
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Anatomical Context for Renal Tubular Acidosis

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MalaCards organs/tissues related to Renal Tubular Acidosis:

38
Kidney, Bone, Testes, Liver, Thyroid, Colon, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Renal Tubular Acidosis:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Proximal Tubule Proximal Tubule Cells Potential therapeutic candidate, affected by disease
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Publications for Renal Tubular Acidosis

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Articles related to Renal Tubular Acidosis:

(show top 50) (show all 676)
# Title Authors Year
1
Anesthetic considerations in a parturient with renal tubular acidosis and hypothyroidism undergoing cesarean delivery. ( 29029882 )
2018
2
Molecular mechanisms of cutis laxa and distal renal tubular acidosis-causing mutations in V-ATPase<i>a</i>subunits, ATP6V0A2 and ATP6V0A4. ( 29311258 )
2018
3
Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing. ( 29437164 )
2018
4
Hyperammonemia associated with distal renal tubular acidosis or urinary tract infection: a systematic review. ( 29134448 )
2018
5
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance. ( 29024829 )
2018
6
Targeted Deletion of the Ncoa7 Gene Results in Incomplete Distal Renal Tubular Acidosis in Mice. ( 29384414 )
2018
7
Sjogren's with distal renal tubular acidosis complicating pregnancy. ( 29361865 )
2018
8
Alport's syndrome with type 4 renal tubular acidosis. ( 28566416 )
2017
9
Tacrolimus-Induced Type IV Renal Tubular Acidosis following Liver Transplantation. ( 28761769 )
2017
10
Pathological fracture in SjAPgren's syndrome due to distal renal tubular acidosis. ( 28971585 )
2017
11
A child with distal (type 1) renal tubular acidosis presenting with progressive gross motor developmental regression and acute paralysis. ( 29178965 )
2017
12
A Case of Renal Tubular Acidosis with Sjogren's Syndrome Showing Paradoxical Block of PTH Due to Severe Hypomagnesemia. ( 29062185 )
2017
13
Transient Distal Renal Tubular Acidosis in Organophosphate Poisoning. ( 28400690 )
2017
14
Ibuprofen-induced distal (type 1) renal tubular acidosis and hypokalaemia: the dangers of ibuprofen-codeine combination over-the-counter preparations. ( 28580738 )
2017
15
Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis. ( 28994037 )
2017
16
Furosemide/Fludrocortisone Test and Clinical Parameters to Diagnose Incomplete Distal Renal Tubular Acidosis in Kidney Stone Formers. ( 28775126 )
2017
17
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. ( 28233610 )
2017
18
[Clinical features of hereditary distal renal tubular acidosis and SLC4A1 gene mutation]. ( 28407820 )
2017
19
Successful Management of Refractory Type 1 Renal Tubular Acidosis with Amiloride. ( 28127482 )
2017
20
Renal Tubular Acidosis in Patients with Primary SjAPgren's Syndrome. ( 29042903 )
2017
21
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis. ( 29202719 )
2017
22
Renal Tubular Acidosis. ( 29093127 )
2017
23
Clinical analysis of hyperkalemic renal tubular acidosis caused by calcineurin inhibitors in solid organ transplant recipients. ( 27966241 )
2017
24
New Findings on the Pathogenesis of Distal Renal Tubular Acidosis. ( 29344504 )
2017
25
Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis. ( 28638614 )
2017
26
Renal Tubular Acidosis, Osteopetrosis, and Cerebral Calcification: A Rare Syndrome Caused by Carbonic Anhydrase II Deficiency. ( 28761241 )
2017
27
Renal Fanconi syndrome in distal renal tubular acidosis. ( 28293727 )
2017
28
Diabetes mellitus and hyperkalemic renal tubular acidosis: case reports and literature review. ( 29319780 )
2017
29
Refining Diagnostic Approaches in Nephrolithiasis: Incomplete Distal Renal Tubular Acidosis. ( 28775128 )
2017
30
Type 3 renal tubular acidosis associated with growth hormone deficiency. ( 28888090 )
2017
31
A Rare Case of Transient Proximal Renal Tubular Acidosis in Pregnancy. ( 29333305 )
2017
32
Amelogenesis Imperfecta with Distal Renal Tubular Acidosis: A Novel Syndrome? ( 28553046 )
2017
33
Proximal Renal Tubular Acidosis (Fanconi syndrome) Induced by Apremilast: A Case Report. ( 28823583 )
2017
34
I^-COPI mediates the retention of kAE1 G701D protein in Golgi apparatus - a mechanistic explanation of distal renal tubular acidosis associated with the G701D mutation. ( 28646128 )
2017
35
Clinical and molecular aspects of distal renal tubular acidosis in children. ( 28188436 )
2017
36
Renal tubular acidosis. ( 28092281 )
2017
37
Systemic lupus erythematosus and renal tubular acidosis associated with hyperthyroidism. Case Report. ( 27179580 )
2016
38
Review of the Diagnostic Evaluation of Renal Tubular Acidosis. ( 27999512 )
2016
39
A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis. ( 27274828 )
2016
40
Bilateral Nephrocalcinosis in Primary Distal Renal Tubular Acidosis. ( 27090423 )
2016
41
A case of multiple myeloma presenting as a distal renal tubular acidosis with extensive bilateral nephrolithiasis. ( 26998308 )
2016
42
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. ( 27540713 )
2016
43
Sjogren's syndrome presenting as Hypokalemic paralysis due to distal renal tubular acidosis. ( 27728182 )
2016
44
Failure to thrive and nephrocalcinosis due to distal renal tubular acidosis: A rare presentation of pediatric lupus nephritis. ( 27900972 )
2016
45
Sodium valproate-induced Fanconi type proximal renal tubular acidosis. ( 26823359 )
2016
46
A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis. ( 27767102 )
2016
47
Distal renal tubular acidosis without renal impairment after use of tenofovir: a case report. ( 27866471 )
2016
48
Case report of renal tubular acidosis and misdiagnosed. ( 26857205 )
2016
49
Bone Mineral Density in SjAPgren Syndrome Patients with and Without Distal Renal Tubular Acidosis. ( 26873478 )
2016
50
Renal tubular acidosis type 4 in pregnancy. ( 26989116 )
2016
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Variations for Renal Tubular Acidosis

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Expression for Renal Tubular Acidosis

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

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Pathways related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 62
Show member pathways
 12.35 ATP6V0A4 ATP6V1B1 SCNN1G SLC26A6 SLC4A1 SLC4A4
2
Insulin receptor recycling 62
Show member pathways
 12 ATP6V0A4 ATP6V1B1 CA2 SLC4A1
3
Bile secretion 36
11.18 CA2 SLC4A4 SLC9A3
4
Aldosterone-regulated sodium reabsorption 36
10.94 NR3C2 SCNN1G
5
Erythrocytes take up carbon dioxide and release oxygen 62
Show member pathways
 10.87 CA2 SLC4A1
6
Proximal tubule bicarbonate reclamation 36
10.49 CA2 SLC4A4 SLC9A3
Sources

GO Terms for Renal Tubular Acidosis

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Cellular components related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.93 ATP6V0A4 ATP6V1B1 CA2 NR3C2 OCRL REN
2 apical part of cell GO:0045177 9.54 ATP6V0A4 CA2 REN
3 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.43 ATP6V0A4 ATP6V1B1
4 brush border membrane GO:0031526 9.43 ATP6V0A4 SLC26A6 SLC9A3
5 apical plasma membrane GO:0016324 9.43 ATP6V0A4 ATP6V1B1 SCNN1G SLC26A6 SLC4A7 SLC9A3
6 basolateral plasma membrane GO:0016323 9.1 ATP6V1B1 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7
7 plasma membrane GO:0005886 10.02 ATP6V0A4 CA2 OCRL REN SCNN1G SLC26A6
8 extracellular exosome GO:0070062 10.01 ATP6V0A4 ATP6V1B1 CA2 OCRL SCNN1G SLC4A1

Biological processes related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.86 SLC26A6 SLC4A4 SLC4A7 SLC9A3
2 sodium ion transport GO:0006814 9.78 SCNN1G SLC4A4 SLC4A7 SLC9A3
3 ion transport GO:0006811 9.76 ATP6V0A4 ATP6V1B1 SCNN1G SLC26A6 SLC4A1 SLC4A4
4 ion transmembrane transport GO:0034220 9.74 ATP6V0A4 ATP6V1B1 SCNN1G
5 excretion GO:0007588 9.69 ATP6V0A4 ATP6V1B1 SCNN1G
6 sodium ion transmembrane transport GO:0035725 9.67 SCNN1G SLC4A1 SLC4A4 SLC4A7
7 anion transmembrane transport GO:0098656 9.62 SLC26A6 SLC4A1 SLC4A4 SLC4A7
8 inorganic anion transport GO:0015698 9.61 SLC4A1 SLC4A4 SLC4A7
9 regulation of pH GO:0006885 9.58 ATP6V0A4 ATP6V1B1 SLC9A3
10 anion transport GO:0006820 9.56 SLC26A6 SLC4A1 SLC4A4 SLC4A7
11 transferrin transport GO:0033572 9.55 ATP6V0A4 ATP6V1B1
12 phagosome acidification GO:0090383 9.54 ATP6V0A4 ATP6V1B1
13 ATP hydrolysis coupled proton transport GO:0015991 9.52 ATP6V0A4 ATP6V1B1
14 positive regulation of dipeptide transmembrane transport GO:2001150 9.46 CA2 SLC26A6
15 bicarbonate transport GO:0015701 9.35 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7
16 regulation of intracellular pH GO:0051453 9.1 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7 SLC9A3
17 transport GO:0006810 10.1 ATP6V0A4 ATP6V1B1 SCNN1G SLC26A6 SLC4A1 SLC4A4

Molecular functions related to Renal Tubular Acidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrogen ion transmembrane transporter activity GO:0015078 9.4 ATP6V0A4 ATP6V1B1
2 anion:anion antiporter activity GO:0015301 9.37 SLC26A6 SLC4A1
3 sodium:bicarbonate symporter activity GO:0008510 9.33 SLC4A1 SLC4A4 SLC4A7
4 bicarbonate transmembrane transporter activity GO:0015106 9.32 SLC26A6 SLC4A1
5 chloride transmembrane transporter activity GO:0015108 9.26 SLC26A6 SLC4A1
6 inorganic anion exchanger activity GO:0005452 9.26 SLC26A6 SLC4A1 SLC4A4 SLC4A7
7 anion transmembrane transporter activity GO:0008509 8.92 SLC26A6 SLC4A1 SLC4A4 SLC4A7
Sources

Sources for Renal Tubular Acidosis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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