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MCID: RNL007
MIFTS: 50

Renal Tubular Acidosis malady

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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Aliases & Descriptions for Renal Tubular Acidosis:

Name: Renal Tubular Acidosis 38 12 50 29 14 69
Acidosis, Renal Tubular 42
Acidosis Renal Tubular 52

Classifications:

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


External Ids:

Disease Ontology 12 DOID:14219
ICD10 33 N25.89
MeSH 42 D000141
NCIt 47 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 with deafness and proximal renal tubular acidosis. 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 : 71 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 related to Renal Tubular Acidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 149)
id Related Disease Score Top Affiliating Genes
1 renal tubular acidosis with deafness 12.6
2 proximal renal tubular acidosis 12.5
3 renal tubular acidosis, distal, ar 12.5
4 renal tubular acidosis, distal, autosomal recessive 12.5
5 renal tubular acidosis, distal, ad 12.5
6 renal tubular acidosis, proximal, with ocular abnormalities 12.4
7 osteopetrosis, autosomal recessive 3, with renal tubular acidosis 12.4
8 slc4a1-associated distal renal tubular acidosis 12.4
9 renal tubular acidosis, distal 12.4
10 renal tubular acidosis, distal, type 3 12.1
11 neuroaxonal dystrophy renal tubular acidosis 12.1
12 autosomal dominant proximal renal tubular acidosis 12.0
13 renal tubular acidosis, distal, type 4 12.0
14 nephrocalcinosis 11.5
15 lowe syndrome 11.1
16 osteopetrosis, autosomal recessive 1 10.9
17 dent disease 2 10.9
18 osteopetrosis 10.3
19 osteomalacia 10.3
20 diabetes insipidus 10.3
21 primary biliary cirrhosis 10.2
22 systemic lupus erythematosus 10.2
23 sjogren's syndrome 10.2
24 lupus erythematosus 10.2
25 meigel disease 10.2 ATP6V0A4 ATP6V1B1
26 sensorineural hearing loss 10.2
27 fanconi syndrome 10.2
28 medullary sponge kidney 10.2
29 cerebritis 10.2
30 hypothyroidism 10.2
31 hyperparathyroidism 10.2
32 cataract 38, autosomal recessive 10.1 ATP6V0A4 ATP6V1B1 SLC4A1
33 nephrolithiasis 10.1
34 myopathy, lactic acidosis, and sideroblastic anemia 2 10.1 SLC4A4 SLC9A3
35 respiratory failure 10.1
36 metabolic acidosis 10.1
37 thyroiditis 10.1
38 mednik syndrome 10.1 SLC26A6 SLC9A3
39 hypokalemia 10.0
40 hyperthyroidism 10.0
41 osteoporosis 10.0
42 hyperammonemia 10.0
43 retinal cone dystrophy 1 10.0 ATP6V0A4 ATP6V1B1 CA2 SLC4A1
44 arthritis 10.0
45 hemolytic anemia 10.0
46 hepatitis 10.0
47 hereditary spherocytosis 10.0
48 rickets 10.0
49 cystinosis 10.0
50 bartter syndrome, type 3 10.0 ATP6V0A4 REN

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 SLC26A6 SLC4A1 SLC4A4 SLC4A7 SLC9A3 TCIRG1
2 growth/size/body region MP:0005378 9.86 ATP6V0A4 CA2 NR3C2 OCRL REN SLC4A1
3 mortality/aging MP:0010768 9.61 ATP6V0A4 CA2 NR3C2 OCRL REN SLC4A1
4 renal/urinary system MP:0005367 9.32 ATP6V0A4 ATP6V1B1 CA2 NR3C2 OCRL REN
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 36)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
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, Vet_approved
22
Fludrocortisone Approved 127-31-1 31378
23
Furosemide Approved, Vet_approved 54-31-9 3440
24 Anticoagulants
25 Anticonvulsants
26 Carbonic Anhydrase Inhibitors
27 Chelating Agents
28 Expectorants
29 Respiratory System Agents
30 Anti-Inflammatory Agents
31 Sodium Potassium Chloride Symporter Inhibitors
32 Antibodies
33 calcitonin
34 Immunoglobulins
35 Citrate Nutraceutical
36
Citric Acid Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
1 Use of Spironolactone for the Prevention of Electrolyte Abnormalities in Patients Treated With Amphotericin B Terminated NCT01843309 Phase 4
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 Renal Tubular Acidosis is Highly Prevalent in Critically Ill Patients Completed NCT02392091
5 A Study Of Mircera In Patients With Kidney Disease Who Are Not On Dialysis Completed NCT02490514
6 Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance Completed NCT02979106
7 Effects of Potassium Citrate in Urine of Children With Elevated Calcium in Urine and Kidney Stones Completed NCT00120731
8 Influence of Polymorphisms in the ATP6V1 Gene of the V-ATPase on the Development of Incomplete Distal Renal Tubular Acidosis Recruiting NCT01690039
9 Genetic and Morphological Analysis of Thyrotoxic Periodic Paralysis Active, not recruiting NCT02287363
10 Diabetic Kidney Alarm (DKA) Study Not yet recruiting NCT03128229
11 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 48 :


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:

id Genetic test Affiliating Genes
1 Renal Tubular Acidosis 29
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Anatomical Context for Renal Tubular Acidosis

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MalaCards organs/tissues related to Renal Tubular Acidosis:

39
Kidney, Bone, Liver, Thyroid, Testes, 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:
id 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 644)
id Title Authors Year
1
Renal tubular acidosis. ( 28092281 )
2017
2
Clinical analysis of hyperkalemic renal tubular acidosis caused by calcineurin inhibitors in solid organ transplant recipients. ( 27966241 )
2017
3
Successful treatment of proximal renal tubular acidosis and Fanconi syndrome with vitamin D replacement. ( 27424705 )
2016
4
Distal Renal Tubular Acidosis Associated with Celiac Disease and Thyroiditis. ( 27889732 )
2016
5
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. ( 27540713 )
2016
6
A case of multiple myeloma presenting as a distal renal tubular acidosis with extensive bilateral nephrolithiasis. ( 26998308 )
2016
7
Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance. ( 28005240 )
2016
8
Anesthetic Management of a Surgical Patient with Chronic Renal Tubular Acidosis Complicated by Subclinical Hypothyroidism. ( 27648310 )
2016
9
Renal tubular acidosis type 4 in pregnancy. ( 26989116 )
2016
10
A novel mutant Na(+) /HCO3(-) cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis. ( 27338124 )
2016
11
Selective screening for distal renal tubular acidosis in recurrent kidney stone formers: initial experience and comparison of the simultaneous furosemide and fludrocortisone test with the short ammonium chloride test. ( 26961999 )
2016
12
Bilateral Nephrocalcinosis in Primary Distal Renal Tubular Acidosis. ( 27090423 )
2016
13
Pathophysiology of Renal Tubular Acidosis: Core CurriculumA 2016. ( 27188519 )
2016
14
Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families. ( 27247958 )
2016
15
Successful treatment of renal tubular acidosis and recurrent secondary struvite kidney stones with rituximab in a patient with primary SjAPgren's syndrome. ( 28031439 )
2016
16
Systemic lupus erythematosus and renal tubular acidosis associated with hyperthyroidism. Case Report. ( 27179580 )
2016
17
Hypokalemic Paralysis in Sjogren's Syndrome Secondary to Renal Tubular Acidosis. ( 27731561 )
2016
18
Case report of renal tubular acidosis and misdiagnosed. ( 26857205 )
2016
19
Late Metabolic Acidosis Caused by Renal Tubular Acidosis in Acute Salicylate Poisoning. ( 27181539 )
2016
20
Sodium valproate-induced Fanconi type proximal renal tubular acidosis. ( 26823359 )
2016
21
Primary sclerosing cholangitis: a new cause of distal renal tubular acidosis. ( 27994859 )
2016
22
Distal renal tubular acidosis without renal impairment after use of tenofovir: a case report. ( 27866471 )
2016
23
Review of the Diagnostic Evaluation of Renal Tubular Acidosis. ( 27999512 )
2016
24
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
25
Failure to thrive and nephrocalcinosis due to distal renal tubular acidosis: A rare presentation of pediatric lupus nephritis. ( 27900972 )
2016
26
Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene. ( 27140593 )
2016
27
Erratum: A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis. ( 27994869 )
2016
28
Sjogren's syndrome presenting as Hypokalemic paralysis due to distal renal tubular acidosis. ( 27728182 )
2016
29
Bone Mineral Density in SjAPgren Syndrome Patients with and Without Distal Renal Tubular Acidosis. ( 26873478 )
2016
30
A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis. ( 27767102 )
2016
31
The need for genetic study to diagnose some cases of distal renal tubular acidosis. ( 27493007 )
2016
32
Transient distal renal tubular acidosis following hump nosed viper bite: Two cases from Sri Lanka. ( 27752013 )
2016
33
Type 4 renal tubular acidosis in a kidney transplant recipient. ( 27105603 )
2016
34
Band 3 null(VIENNA) , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis. ( 27718309 )
2016
35
Distal Renal Tubular Acidosis Screening by Urinary Acidification Testing in Mexican Children. ( 26202743 )
2015
36
Hypokalemic paralysis as a primary presentation of Fanconi's syndrome and distal renal tubular acidosis in a patient with primary Sjogren's syndrome. ( 26053828 )
2015
37
Renal tubular acidosis type IV as a complication of lupus nephritis. ( 26345674 )
2015
38
Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness. ( 25517796 )
2015
39
Comprehensive clinical approach to renal tubular acidosis. ( 25951806 )
2015
40
Hypokalemia and suspected renal tubular acidosis associated with topical carbonic anhydrase inhibitor therapy in a cat. ( 26595765 )
2015
41
Renal tubular acidosis complicated with hyponatremia due to cortisol insufficiency. ( 26609420 )
2015
42
Hypokalemia-Induced Rhabdomyolysis as a result of Distal Renal Tubular Acidosis in a Pregnant Woman: A Case Report and Literature Review. ( 26788388 )
2015
43
Distal renal tubular acidosis in primary hyperparathyroidism. ( 25634859 )
2015
44
Hyperammonemia in Distal Renal Tubular Acidosis: A New Case and Review of the Literature. ( 26138379 )
2015
45
Clinical and laboratory approaches in the diagnosis of renal tubular acidosis. ( 25823989 )
2015
46
Renal tubular acidosis is highly prevalent in critically ill patients. ( 25888397 )
2015
47
Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis. ( 26208211 )
2015
48
A novel mutation pattern of kidney anion exchanger 1 gene in patients with distal renal tubular acidosis in Iran. ( 25957428 )
2015
49
Decreased Renal Expression of H(+)-ATPase and Pendrin in a Patient with Distal Renal Tubular Acidosis Associated with SjAPgren's Syndrome. ( 26568006 )
2015
50
Central diabetes insipidus, central hypothyroidism, renal tubular acidosis and dandy-walker syndrome: new associations. ( 25861538 )
2015
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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:

id 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 SLC26A6 SLC4A1 SLC4A4 SLC4A7
2
Insulin receptor recycling 62
Show member pathways
 11.8 ATP6V0A4 ATP6V1B1 CA2 SLC4A1 TCIRG1
3
Phagosome 37
11.76 ATP6V0A4 ATP6V1B1 TCIRG1
4
Synaptic vesicle cycle 37
Show member pathways
 11.6 ATP6V0A4 ATP6V1B1 TCIRG1
5
Rheumatoid arthritis 37
11.45 ATP6V0A4 ATP6V1B1 TCIRG1
6
Bile secretion 37
11.28 CA2 SLC4A4 SLC9A3
7
Erythrocytes take up carbon dioxide and release oxygen 62
Show member pathways
 10.98 CA2 SLC4A1
8
Proximal tubule bicarbonate reclamation 37
10.69 CA2 SLC4A4 SLC9A3
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GO Terms for Renal Tubular Acidosis

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 apical part of cell GO:0045177 9.65 ATP6V0A4 CA2 REN
2 phagocytic vesicle membrane GO:0030670 9.61 ATP6V0A4 OCRL TCIRG1
3 brush border membrane GO:0031526 9.5 ATP6V0A4 SLC26A6 SLC9A3
4 proton-transporting V-type ATPase, V0 domain GO:0033179 9.46 ATP6V0A4 TCIRG1
5 apical plasma membrane GO:0016324 9.43 ATP6V0A4 ATP6V1B1 SLC26A6 SLC4A7 SLC9A3 TCIRG1
6 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 9.37 ATP6V0A4 TCIRG1
7 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.33 ATP6V0A4 ATP6V1B1 TCIRG1
8 basolateral plasma membrane GO:0016323 9.1 ATP6V1B1 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7
9 plasma membrane GO:0005886 10.1 ATP6V0A4 CA2 OCRL REN SLC26A6 SLC4A1
10 extracellular exosome GO:0070062 10.04 ATP6V0A4 ATP6V1B1 CA2 OCRL SLC4A1 SLC4A4
11 membrane GO:0016020 10.03 ATP6V0A4 ATP6V1B1 CA2 NR3C2 OCRL REN

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.76 ATP6V0A4 ATP6V1B1 SLC26A6 SLC4A1 SLC4A4 SLC4A7
2 sodium ion transport GO:0006814 9.74 SLC4A4 SLC4A7 SLC9A3
3 proton transport GO:0015992 9.71 ATP6V0A4 ATP6V1B1 TCIRG1
4 insulin receptor signaling pathway GO:0008286 9.7 ATP6V0A4 ATP6V1B1 TCIRG1
5 transferrin transport GO:0033572 9.69 ATP6V0A4 ATP6V1B1 TCIRG1
6 ATP hydrolysis coupled proton transport GO:0015991 9.63 ATP6V0A4 ATP6V1B1 TCIRG1
7 anion transmembrane transport GO:0098656 9.62 SLC26A6 SLC4A1 SLC4A4 SLC4A7
8 phagosome acidification GO:0090383 9.61 ATP6V0A4 ATP6V1B1 TCIRG1
9 excretion GO:0007588 9.58 ATP6V0A4 ATP6V1B1
10 ATP synthesis coupled proton transport GO:0015986 9.58 ATP6V0A4 TCIRG1
11 inorganic anion transport GO:0015698 9.58 SLC4A1 SLC4A4 SLC4A7
12 vacuolar acidification GO:0007035 9.56 ATP6V0A4 TCIRG1
13 anion transport GO:0006820 9.56 SLC26A6 SLC4A1 SLC4A4 SLC4A7
14 vacuolar proton-transporting V-type ATPase complex assembly GO:0070072 9.55 ATP6V0A4 TCIRG1
15 regulation of pH GO:0006885 9.54 ATP6V0A4 ATP6V1B1 SLC9A3
16 positive regulation of dipeptide transmembrane transport GO:2001150 9.48 CA2 SLC26A6
17 bicarbonate transport GO:0015701 9.35 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7
18 regulation of intracellular pH GO:0051453 9.1 CA2 SLC26A6 SLC4A1 SLC4A4 SLC4A7 SLC9A3
19 transport GO:0006810 10.1 ATP6V0A4 ATP6V1B1 SLC26A6 SLC4A1 SLC4A4 SLC4A7

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

id Name GO ID Score Top Affiliating Genes
1 anion:anion antiporter activity GO:0015301 9.43 SLC26A6 SLC4A1
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.4 ATP6V0A4 TCIRG1
3 bicarbonate transmembrane transporter activity GO:0015106 9.37 SLC26A6 SLC4A1
4 hydrogen ion transmembrane transporter activity GO:0015078 9.33 ATP6V0A4 ATP6V1B1 TCIRG1
5 chloride transmembrane transporter activity GO:0015108 9.32 SLC26A6 SLC4A1
6 sodium:bicarbonate symporter activity GO:0008510 9.26 SLC4A4 SLC4A7
7 inorganic anion exchanger activity GO:0005452 9.26 SLC26A6 SLC4A1 SLC4A4 SLC4A7
8 anion transmembrane transporter activity GO:0008509 8.92 SLC26A6 SLC4A1 SLC4A4 SLC4A7
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Sources for Renal Tubular Acidosis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 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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