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MCID: RNL007
MIFTS: 49

Renal Tubular Acidosis

Categories: Blood diseases, Nephrological diseases, Rare 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 12 75 53 29 15 72
Acidosis, Renal Tubular 44
Acidosis Renal Tubular 55

Classifications:

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


External Ids:

Disease Ontology 12 DOID:14219
MeSH 44 D000141
NCIt 50 C28129
SNOMED-CT 68 1776003
ICD10 33 N25.89
UMLS 72 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, with hemolytic anemia and renal tubular acidosis, distal, autosomal recessive. 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 Sodium citrate and Potassium Citrate have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and bone, and related phenotypes are homeostasis/metabolism and renal/urinary system

Wikipedia : 75 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 Primary Renal Tubular Acidosis

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

(show top 50) (show all 426)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, with hemolytic anemia 35.1 WDR72 SLC4A1
2 renal tubular acidosis, distal, autosomal recessive 34.9 SLC4A1 ATP6V1B1 ATP6V0A4
3 renal tubular acidosis, distal, autosomal dominant 34.5 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
4 osteopetrosis, autosomal recessive 3 34.2 CA2 ATP6V1B1 ATP6V0A4
5 nephrocalcinosis 32.4 SLC4A1 OCRL CA2 ATP6V1B1 ATP6V0A4
6 medullary sponge kidney 31.4 ATP6V1B1 ATP6V0A4
7 metabolic acidosis 30.8 SLC9A3 SLC4A4 SLC4A1 CA2 ATP6V1B1 ATP6V0A4
8 renal tubular acidosis, distal, with progressive nerve deafness 13.2
9 slc4a1-associated distal renal tubular acidosis 13.0
10 distal renal tubular acidosis 13.0
11 renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 13.0
12 renal tubular acidosis, proximal 13.0
13 renal tubular acidosis iii 12.6
14 primary renal tubular acidosis 12.6
15 renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies 12.6
16 renal tubular acidosis, distal, type 3 12.5
17 neuroaxonal dystrophy renal tubular acidosis 12.5
18 obsolete: neuroaxonal dystrophy-renal tubular acidosis syndrome 12.5
19 autosomal dominant proximal renal tubular acidosis 12.5
20 osteopetrosis 11.8
21 arthrogryposis, renal dysfunction, and cholestasis 1 11.7
22 hypoparathyroidism, sensorineural deafness, and renal disease 11.7
23 lowe oculocerebrorenal syndrome 11.5
24 glomerulopathy with fibronectin deposits 2 11.5
25 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.5
26 say syndrome 11.3
27 dent disease 2 11.3
28 amelogenesis imperfecta hypoplastic type, ig 11.3
29 childhood myocerebrohepatopathy spectrum 11.3
30 hypokalemia 11.0
31 branchiootic syndrome 1 10.8
32 nephrolithiasis, calcium oxalate 10.8
33 osteomalacia 10.8
34 rickets 10.8
35 sensorineural hearing loss 10.7
36 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
37 fanconi syndrome 10.7
38 periodic paralysis 10.7
39 sjogren syndrome 10.6
40 liver cirrhosis 10.6
41 bone disease 10.6
42 interstitial nephritis 10.6
43 diabetes insipidus 10.6
44 autoimmune disease 10.6
45 primary biliary cirrhosis 10.6
46 primary biliary cholangitis 10.6
47 elliptocytosis 2 10.6
48 systemic lupus erythematosus 10.6
49 elliptocytosis 3 10.6
50 diabetes insipidus, nephrogenic, autosomal 10.6

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 ATP6V0A4 ATP6V1B1 CA2 OCRL REN SLC12A7
2 renal/urinary system MP:0005367 9.73 ATP6V0A4 ATP6V1B1 CA2 OCRL REN SLC12A7
3 skeleton MP:0005390 9.17 ATP6V0A4 ATP6V0D2 ATP6V1B1 CA2 SLC4A4 SLC4A7
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 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Potassium Citrate Approved, Investigational, Vet_approved Phase 4
3
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
4
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
5
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
6
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
7
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
8 Citrate Phase 4
9 Respiratory System Agents Phase 4
10 Expectorants Phase 4
11 Calcium, Dietary Phase 4
12 Chelating Agents Phase 4
13 Anticoagulants Phase 4
14 diuretics Phase 4
15 Natriuretic Agents Phase 4
16 Hormones Phase 4
17 Antifungal Agents Phase 4
18 Liposomal amphotericin B Phase 4
19 Diuretics, Potassium Sparing Phase 4
20 Mineralocorticoid Receptor Antagonists Phase 4
21 Anti-Infective Agents Phase 4
22 Hormone Antagonists Phase 4
23 Mineralocorticoids Phase 4
24 Anti-Bacterial Agents Phase 4
25 Antiparasitic Agents Phase 4
26 Antiprotozoal Agents Phase 4
27 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
28 Bone Density Conservation Agents Phase 2, Phase 3
29
carbamide peroxide Approved 124-43-6
30
Fludrocortisone Approved, Investigational 127-31-1 31378
31
Furosemide Approved, Vet_approved 54-31-9 3440
32
Acetazolamide Approved, Vet_approved 59-66-5 1986
33
Parathyroid hormone Approved, Investigational 9002-64-6
34
Topiramate Approved 97240-79-4 5284627
35
Vitamin D3 Approved, Nutraceutical 67-97-0 6221 5280795
36
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
37
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
38 Anti-Inflammatory Agents
39 Sodium Potassium Chloride Symporter Inhibitors
40 Carbonic Anhydrase Inhibitors
41 Trace Elements
42 Micronutrients
43 Vitamin D2
44 Vitamins
45 Nutrients
46 Calciferol
47 Ergocalciferols
48 Hypoglycemic Agents
49 Anticonvulsants

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 A Randomized, Blank Controlled, Multicenter Clinical Trial of the Effection of Potassium Citrate Extended-release Tablets on Urolithiasis Formation or Recurrence Recruiting NCT03007160 Phase 4 Potassium Citrate Extended-release Tablets
2 Use of Spironolactone for the Prevention of Electrolyte Abnormalities in Patients Treated With Amphotericin B Terminated NCT01843309 Phase 4 Spironolactone 100mg;Spironolactone 200mg;Placebo
3 Calcium Nephrolithiasis: Clinical Characteristics and Nutritional Determinants Completed NCT01005082 Phase 2, Phase 3
4 A Phase 3 Multicenter, Randomized, Double-Blinded, Placebo-Controlled Withdrawal Study Evaluating ADV7103 In Pediatric and Adult Subjects With Distal Renal Tubular Acidosis (dRTA) Recruiting NCT03644706 Phase 3 ADV7103;Placebos
5 A Phase 3B Open-Label Extension Of Study B23CS (ARENA 2) Evaluating The Continued Safety And Efficacy Of ADV7103 In Subjects With Primary Distal Renal Tubular Acidosis Not yet recruiting NCT03831152 Phase 3 ADV7103
6 Renal Tubular Acidosis in Incident Renal Transplant Recipients Unknown status NCT01283880
7 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH) Unknown status NCT03268460
8 Study of Renal Transporters and Their Regulators After Renal Transplantation Unknown status NCT00427024
9 Comparison of Furosemide/Fludrocortisone With Ammonium Chloride Loading Test in the Diagnosis of Incomplete dRTA in Kidney Stone Formers Completed NCT01690039 Furosemide-Fludrocortisone-Test (test for urinary acidification)
10 Renal Tubular Acidosis is Highly Prevalent in Critically Ill Patients Completed NCT02392091
11 Mircera In Patients With CKD Stages III-IV Not On Dialysis: Observational, Non-interventional Cohort Study Completed NCT02490514
12 Are Heterozygous Carriers for Hereditary Fructose Intolerance Predisposed to Metabolic Disturbances When Exposed to Fructose? Completed NCT02979106
13 Urinary Chemistry and Acid-Base Effects of Potassium Citrate in Children With Idiopathic Hypercalciuria and Urolithiasis Completed NCT00120731 Potassium Citrate;Acetazolamide
14 Preoperative Vitamin D Status and Efficacy of Therapeutic Vitamin D Supplementation Postoperatively in Bariatric Surgery Patients Completed NCT01385098
15 Stone Disease in Children and Their Families Available NCT00765531
16 Use of Sodium Bicarbonate to Alkalinize Serum/Urine in Pediatric Patients Treated With Topiramate (Pilot Study) Not yet recruiting NCT03354507
17 Genetic Study of Nephrolithiasis in Gouty Diathesis Terminated NCT00149305

Search NIH Clinical Center for Renal Tubular Acidosis

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Citric Acid
CITRIC ACID GRANULES
citric acid monohydrate
Citric Acid, Anhydrous
CITRIC ACID,HYDROUS
CITRUS NARINGININE
Hydrochlorothiazide
Potassium Citrate
Sodium Bicarbonate
SODIUM BICARBONATE PWDR

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 29
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Anatomical Context for Renal Tubular Acidosis

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MalaCards organs/tissues related to Renal Tubular Acidosis:

41
Kidney, Bone, Liver, Testes, Thyroid, Brain, Bone Marrow
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 Affected by disease, potential therapeutic candidate
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Publications for Renal Tubular Acidosis

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Articles related to Renal Tubular Acidosis:

(show top 50) (show all 2446)
# Title Authors PMID Year
1
Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene. 9 38
20068363 2010
2
Carbonic anhydrase II deficiency a novel mutation. 9 38
19556665 2009
3
Functional significance of channels and transporters expressed in the inner ear and kidney. 9 38
17670895 2007
4
Carbonic anhydrase II in the developing and adult human brain. 9 38
16825953 2006
5
Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome. 9 38
16382316 2006
6
Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. 9 38
15713912 2005
7
Dent Disease with mutations in OCRL1. 9 38
15627218 2005
8
Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification. 9 38
15701991 2005
9
Autoantibodies against carbonic anhydrase II are increased in renal tubular acidosis associated with Sjogren syndrome. 9 38
15694905 2005
10
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. 9 38
15300855 2004
11
Paralysis Episodes in Carbonic Anhydrase II Deficiency. 9 38
17657093 2003
12
Rapid improvement of osteomalacia by treatment in a case with Sjögren's syndrome, rheumatoid arthritis and renal tubular acidosis type 1. 9 38
11518137 2001
13
Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome. 9 38
11264157 2001
14
Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. 9 38
9854053 1998
15
Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency. 9 38
9630052 1998
16
Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy. 9 38
9525974 1998
17
Promoter activity of carbonic anhydrase II regulatory regions in cultured renal proximal tubular cells. 9 38
9674946 1998
18
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. 9 38
9312167 1997
19
Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency: pathogenesis of impaired acidification. 9 38
9323296 1997
20
Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus. 9 38
9150731 1997
21
Recent developments in the understanding of the pathophysiology of osteopetrosis. 9 38
8630510 1996
22
Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients. 9 38
8128957 1994
23
Carbonic anhydrase II deficiency syndrome--clinico-pathological, biochemical and molecular studies. 9 38
7700057 1994
24
[Recent progress in molecular biology of inherited tubular transport abnormalities]. 9 38
1491459 1992
25
[A case of Hashimoto's thyroiditis associated with renal tubular acidosis, Sjögren syndrome and empty sella syndrome]. 9 38
1468597 1992
26
Molecular basis of human carbonic anhydrase II deficiency. 9 38
1542674 1992
27
Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis. 9 38
1959222 1991
28
Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification). 9 38
1925679 1991
29
The excretion of carbonic anhydrase isozymes CA I and CA II in the urine of apparently healthy subjects and in patients with kidney disease. 9 38
2123360 1990
30
Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients. 9 38
2117271 1990
31
Familial hyperkalemia and hypertension and a hypothesis to explain proximal renal tubular acidosis. 38
31371517 2019
32
Renal tubular acidosis as the initial presentation of Sjögren's syndrome. 38
31413059 2019
33
The impact of potassium citrate therapy in the natural course of Medullary Sponge Kidney with associated nephrolithiasis. 38
31266277 2019
34
Molecular Pathophysiology of Acid-Base Disorders. 38
31300090 2019
35
Hyperchloremic normal gap metabolic acidosis. 38
31347344 2019
36
Renal Tubular Function, Bone Health and Body Composition in Wilson's Disease: A Cross-Sectional Study from India. 38
31317233 2019
37
A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report. 38
31348261 2019
38
Emerging Features of Ammonia Metabolism and Transport in Acid-Base Balance. 38
31300094 2019
39
C-Terminal Fibroblast Growth Factor-23 Levels in Non-Nutritional Hypophosphatemic Rickets. 38
30835073 2019
40
Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice. 38
31040187 2019
41
Treatment and long-term outcome in primary distal renal tubular acidosis. 38
30773598 2019
42
[Distal hereditary renal tubular acidosis, diagnosis in siblings: About 2 pediatric cases]. 38
31063314 2019
43
Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency. 38
31061753 2019
44
Cleistanthus collinus poisoning affects mitochondrial respiration and induces oxidative stress in the rat kidney. 38
31161845 2019
45
Distal renal tubular acidosis: genetic causes and management. 38
31079338 2019
46
Presence of serum autoantibodies to vacuolar H+ -ATPase in patients with renal tubular acidosis. 38
30821427 2019
47
WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis. 38
30779877 2019
48
Severe metabolic alkalosis due to diuretic treatment in a patient with distal renal tubular acidosis: a rare association. 38
31125018 2019
49
Prevalence of distal renal tubular acidosis in patients with calcium phosphate stones. 38
31079188 2019
50
Renal Tubular Acidosis Presenting as Nephrogenic Diabetes Insipidus. 38
31064905 2019
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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 66
Show member pathways
 12.45 SLC9A3 SLC4A7 SLC4A4 SLC4A1 SLC26A6 SLC26A1
2
Insulin receptor recycling 66
Show member pathways
 11.88 SLC4A1 SLC12A7 CA2 ATP6V1B1 ATP6V0D2 ATP6V0A4
3
Phagosome 37
11.76 ATP6V1B1 ATP6V0D2 ATP6V0A4
4
Synaptic vesicle cycle 37
Show member pathways
 11.66 ATP6V1B1 ATP6V0D2 ATP6V0A4
5
Rheumatoid arthritis 37
11.47 ATP6V1B1 ATP6V0D2 ATP6V0A4
6
Bile secretion 37
11.29 SLC9A3 SLC4A4 CA2
7
Erythrocytes take up carbon dioxide and release oxygen 66
Show member pathways
 10.98 SLC4A1 CA2
8
Proximal tubule bicarbonate reclamation 37
10.69 SLC9A3 SLC4A4 CA2
Sources

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 12)
# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.95 SLC4A7 SLC4A4 SLC4A1 SLC26A6 SLC26A1 SLC12A7
2 endosome GO:0005768 9.81 WDR72 OCRL ATP6V0D2 ATP6V0A4
3 apical part of cell GO:0045177 9.63 REN CA2 ATP6V0A4
4 phagocytic vesicle membrane GO:0030670 9.58 OCRL ATP6V0D2 ATP6V0A4
5 brush border membrane GO:0031526 9.54 SLC9A3 SLC26A6 ATP6V0A4
6 proton-transporting V-type ATPase, V0 domain GO:0033179 9.43 ATP6V0D2 ATP6V0A4
7 apical plasma membrane GO:0016324 9.43 SLC9A3 SLC4A7 SLC26A6 ATP6V1B1 ATP6V0D2 ATP6V0A4
8 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.33 ATP6V1B1 ATP6V0D2 ATP6V0A4
9 basolateral plasma membrane GO:0016323 9.17 SLC4A7 SLC4A4 SLC4A1 SLC26A6 SLC26A1 CA2
10 membrane GO:0016020 10.07 SLC9A3 SLC4A7 SLC4A4 SLC4A1 SLC26A6 SLC26A1
11 plasma membrane GO:0005886 10.06 SLC9A3 SLC4A7 SLC4A4 SLC4A1 SLC26A6 SLC26A1
12 extracellular exosome GO:0070062 10.04 SLC9A3 SLC4A4 SLC4A1 CA2 ATP6V1B1 ATP6V0D2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 SLC9A3 SLC4A7 SLC4A4 SLC26A6 SLC26A1 SLC12A7
2 ion transport GO:0006811 9.85 SLC9A3 SLC4A7 SLC4A4 SLC4A1 SLC26A6 SLC26A1
3 sodium ion transport GO:0006814 9.77 SLC9A3 SLC4A7 SLC4A4
4 proton transmembrane transport GO:1902600 9.74 SLC9A3 ATP6V1B1 ATP6V0A4
5 insulin receptor signaling pathway GO:0008286 9.71 ATP6V1B1 ATP6V0D2 ATP6V0A4
6 chloride transport GO:0006821 9.7 SLC4A1 SLC26A6 SLC26A1
7 transferrin transport GO:0033572 9.69 ATP6V1B1 ATP6V0D2 ATP6V0A4
8 inorganic anion transport GO:0015698 9.67 SLC4A7 SLC4A4 SLC4A1
9 chloride transmembrane transport GO:1902476 9.67 SLC4A1 SLC26A6 SLC26A1 SLC12A7
10 ATP hydrolysis coupled proton transport GO:0015991 9.65 ATP6V1B1 ATP6V0D2 ATP6V0A4
11 anion transmembrane transport GO:0098656 9.65 SLC4A7 SLC4A4 SLC4A1 SLC26A6 SLC26A1
12 anion transport GO:0006820 9.62 SLC4A7 SLC4A4 SLC4A1 SLC26A6
13 excretion GO:0007588 9.6 ATP6V1B1 ATP6V0A4
14 sulfate transport GO:0008272 9.58 SLC26A6 SLC26A1
15 sulfate transmembrane transport GO:1902358 9.58 SLC26A6 SLC26A1
16 regulation of pH GO:0006885 9.58 SLC9A3 ATP6V1B1 ATP6V0A4
17 vacuolar acidification GO:0007035 9.56 ATP6V0D2 ATP6V0A4
18 oxalate transport GO:0019532 9.55 SLC26A6 SLC26A1
19 positive regulation of dipeptide transmembrane transport GO:2001150 9.46 SLC26A6 CA2
20 bicarbonate transport GO:0015701 9.43 SLC4A7 SLC4A4 SLC4A1 SLC26A6 SLC26A1 CA2
21 regulation of intracellular pH GO:0051453 9.1 SLC9A3 SLC4A7 SLC4A4 SLC4A1 SLC26A6 CA2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.67 SLC4A7 SLC4A4 SLC12A7
2 antiporter activity GO:0015297 9.58 SLC9A3 SLC26A6 SLC26A1
3 proton transmembrane transporter activity GO:0015078 9.54 ATP6V1B1 ATP6V0D2 ATP6V0A4
4 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.52 ATP6V0D2 ATP6V0A4
5 sulfate transmembrane transporter activity GO:0015116 9.51 SLC26A6 SLC26A1
6 anion:anion antiporter activity GO:0015301 9.5 SLC4A1 SLC26A6 SLC26A1
7 secondary active sulfate transmembrane transporter activity GO:0008271 9.48 SLC26A6 SLC26A1
8 oxalate transmembrane transporter activity GO:0019531 9.46 SLC26A6 SLC26A1
9 sodium:bicarbonate symporter activity GO:0008510 9.43 SLC4A7 SLC4A4
10 chloride transmembrane transporter activity GO:0015108 9.43 SLC4A1 SLC26A6 SLC26A1
11 bicarbonate transmembrane transporter activity GO:0015106 9.33 SLC4A1 SLC26A6 SLC26A1
12 inorganic anion exchanger activity GO:0005452 9.13 SLC4A7 SLC4A4 SLC4A1
13 anion transmembrane transporter activity GO:0008509 8.92 SLC4A7 SLC4A4 SLC4A1 SLC26A6
Sources

Sources for Renal Tubular Acidosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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