MCID: RNL021
MIFTS: 38

Renal Tubular Transport Disease

Categories: Nephrological diseases

Aliases & Classifications for Renal Tubular Transport Disease

MalaCards integrated aliases for Renal Tubular Transport Disease:

Name: Renal Tubular Transport Disease 12 15
Renal Tubular Transport, Inborn Errors 44 73
Inborn Renal Tubular Transport Disorder 12

Classifications:



External Ids:

Disease Ontology 12 DOID:447
MeSH 44 D015499
UMLS 73 C0035091

Summaries for Renal Tubular Transport Disease

MalaCards based summary : Renal Tubular Transport Disease, also known as renal tubular transport, inborn errors, is related to fanconi syndrome and renal tubular acidosis. An important gene associated with Renal Tubular Transport Disease is CLCN5 (Chloride Voltage-Gated Channel 5), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Progesterone and Mifepristone have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are Increased cell death HMECs cells and cardiovascular system

Wikipedia : 76 Inborn errors of renal tubular transport are metabolic disorders which lead to impairment in the ability... more...

Related Diseases for Renal Tubular Transport Disease

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 fanconi syndrome 31.2 CLCN5 OCRL
2 renal tubular acidosis 31.0 ATP6V0A4 OCRL REN SCNN1G
3 dent disease 1 30.1 CLCN5 CLCNKA CLCNKB KCNJ1 OCRL
4 hypercalciuria, absorptive, 2 10.5 CLCN5 KCNJ1
5 bartter syndrome, type 1, antenatal 10.4 ATP6V0A4 SLC12A1
6 polyhydramnios 10.3 CLCNKB KCNJ1 SLC12A1
7 impaired renal function disease 10.3 ATP6V0A4 SLC12A1
8 renal hypertension 10.2 REN SLC12A3
9 nephrocalcinosis 10.1 CLCN5 CLCNKB KCNJ1 SLC12A1
10 conn's syndrome 10.1 CLCNKB REN SLC12A3
11 apparent mineralocorticoid excess 10.1 ATP6V0A4 CLCNKB REN
12 familial hypertension 10.0 KLHL3 WNK1 WNK4
13 lowe oculocerebrorenal syndrome 10.0 CLCN5 OCRL
14 bartter syndrome, type 4b, neonatal, with sensorineural deafness 10.0 CLCNKA CLCNKB
15 bartter syndrome, type 2, antenatal 10.0 KCNJ1 SCNN1B SCNN1G
16 deafness, autosomal recessive 96 10.0 CLCNKA CLCNKB
17 idiopathic bronchiectasis 10.0 SCNN1B SCNN1G
18 autosomal recessive nonsyndromic deafness 36 9.9 CLCNKA CLCNKB
19 arthrogryposis, distal, type 3 9.9 REN SLC12A3 WNK1 WNK4
20 metabolic acidosis 9.8 ATP6V0A4 KLHL3 WNK4
21 pseudohypoaldosteronism, type i, autosomal dominant 9.8 REN SCNN1B SCNN1G
22 pseudohypoaldosteronism, type i, autosomal recessive 9.8 REN SCNN1B SCNN1G
23 antenatal bartter syndrome 9.8 BSND KCNJ1 REN SLC12A1
24 liddle syndrome 9.7 REN SCNN1B SCNN1G
25 infantile bartter syndrome with sensorineural deafness 9.7 BSND CLCNKA CLCNKB
26 pseudohyperkalemia, familial, 2, due to red cell leak 9.6 KCNJ1 REN SCNN1G WNK1 WNK4
27 hypertension, essential 9.5 REN SLC12A1 SLC12A3 WNK1 WNK4
28 diabetes insipidus, nephrogenic, autosomal 9.5 ATP6V0A4 CLCNKA SLC12A1
29 diabetes insipidus 9.5 CLCNKA REN SLC12A1
30 mineral metabolism disease 9.3 ATP6V0A4 CLCN5 CLCNKB KCNJ1 REN SLC12A3
31 gitelman syndrome 9.3 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
32 hypokalemia 9.3 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
33 bartter syndrome, type 3 8.8 ATP6V0A4 BSND CLCNKB KCNJ1 REN SLC12A1
34 bartter disease 8.0 BSND CLCN5 CLCNKA CLCNKB KCNJ1 REN
35 pseudohypoaldosteronism 8.0 KCNJ1 KLHL3 REN SCNN1B SCNN1G SLC12A3

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



Diseases related to Renal Tubular Transport Disease

Symptoms & Phenotypes for Renal Tubular Transport Disease

GenomeRNAi Phenotypes related to Renal Tubular Transport Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 9.02 KLHL3 OCRL STK39 WNK1 WNK4

MGI Mouse Phenotypes related to Renal Tubular Transport Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 KLHL3 WNK4 REN SCNN1B BSND SLC12A1
2 growth/size/body region MP:0005378 9.85 WNK1 OCRL REN SCNN1B ATP6V0A4 SCNN1G
3 homeostasis/metabolism MP:0005376 9.83 KLHL3 WNK4 OCRL REN SCNN1B ATP6V0A4
4 renal/urinary system MP:0005367 9.47 WNK4 OCRL REN SCNN1B ATP6V0A4 SCNN1G

Drugs & Therapeutics for Renal Tubular Transport Disease

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

(show top 50) (show all 180)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
2
Mifepristone Approved, Investigational Phase 4 84371-65-3 55245
3
Insulin Glargine Approved Phase 4 160337-95-1
4
Insulin glulisine Approved Phase 4 207748-29-6
5
Penicillamine Approved Phase 4 52-67-5 5852 4727
6 Protective Agents Phase 4,Phase 2,Phase 1,Not Applicable
7 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Chelating Agents Phase 4,Phase 2,Not Applicable
9 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 2
10 Antidotes Phase 4
11
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 24356-66-9 32326 21704
12
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
13
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 21679-14-1, 75607-67-9 30751
14
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
15
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 55-98-1 2478
16
Cysteamine Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 60-23-1 6058
17
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3,Not Applicable 58-93-5 3639
18
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1,Not Applicable 22916-47-8 4189
19
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1,Not Applicable 24280-93-1 446541
20
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 128794-94-5 5281078
21
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
22
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
23
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 1406-16-2
24
Ergocalciferol Approved, Nutraceutical Phase 3,Not Applicable 50-14-6 5280793
25 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
26 Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
27 Hormones Phase 3,Phase 2,Phase 1,Not Applicable
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1,Not Applicable
29 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
30 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
31 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
32 Antiviral Agents Phase 2, Phase 3,Phase 1,Not Applicable
33 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
34 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
35 diuretics Phase 2, Phase 3,Phase 1,Not Applicable
36 Micronutrients Phase 3,Phase 2,Not Applicable
37 Natriuretic Agents Phase 2, Phase 3,Phase 1,Not Applicable
38 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3,Not Applicable
39 Trace Elements Phase 3,Phase 2,Not Applicable
40 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1,Not Applicable
41 Ergocalciferols Phase 3,Not Applicable
42 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1,Not Applicable
43 Vitamins Phase 3,Phase 2,Not Applicable
44 Antihypertensive Agents Phase 2, Phase 3,Not Applicable
45 Antifungal Agents Phase 2, Phase 3,Phase 1,Not Applicable
46 Antitubercular Agents Phase 2, Phase 3,Phase 1,Not Applicable
47 Bone Density Conservation Agents Phase 3,Not Applicable
48 Mitogens Phase 3,Phase 2,Phase 1
49 Immunoglobulin G Phase 3,Phase 2
50 Antibodies Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 136)
# Name Status NCT ID Phase Drugs
1 Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cystinuria Completed NCT02125721 Phase 4 CBTD 0-3 gm
2 Monocentric STUDY, Randomised Double Blinded (Healthy Subjects, or Transversal (Patients With Gitelman Syndrome) Completed NCT02297048 Phase 4
3 Combined Diabetes-Renal Multifactorial Intervention In Patients With Advanced Diabetic Nephropathy (ADN) Completed NCT00708981 Phase 4
4 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
5 Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis Completed NCT01000961 Phase 3 Cystagon® (Cysteamine Bitartrate);Cysteamine Bitartrate Delayed-release Capsules (RP103)
6 Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic Rickets Completed NCT01237288 Phase 3 Z-521
7 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
8 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets Recruiting NCT03581591 Phase 3
9 TBI Dose De-escalation for Fanconi Anemia Recruiting NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
10 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
11 Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Active, not recruiting NCT02915705 Phase 3 oral phosphate;active vitamin D
12 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02537431 Phase 3
13 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02526160 Phase 3
14 Dose-Dependent Effect of Thiazide in Dent's Disease Hypercalciuria Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
15 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency Unknown status NCT02640443 Phase 2 Sulfamethoxazole
16 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
17 Phase II Study of the Pathophysiology and Treatment With Enalapril and Polystyrene Sulfonate for Pseudohypoaldosteronism, Type I Completed NCT00004328 Phase 2 enalapril;polystyrene sulfonate
18 Input of the Use of Indometacin in Gitelman Syndrome as Compared to Potassium Sparing Diuretics Completed NCT01146197 Phase 1, Phase 2 TREATMENT
19 Growth Hormone Treatment in Children With Hypophosphatemic Rickets Completed NCT02720770 Phase 1, Phase 2 norditropine simplex
20 An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01571596 Phase 1, Phase 2 KRN23
21 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
22 A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia Completed NCT01340482 Phase 1, Phase 2 KRN23
23 Multicenter Transplant Study for Fanconi Anemia Completed NCT01082133 Phase 2 Chemotherapy
24 Hematopoietic Stem Cell Transplant for Fanconi Anemia Completed NCT01071239 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;ATG
25 Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT00987480 Phase 2 Busulfan, fludarabine, & cyclophosphamide with immunosuppression with ATG and cyclosporine.
26 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100 Completed NCT00479115 Phase 1, Phase 2 AMD3100
27 Use of an Herbal Preparation to Prevent and Dissolve Kidney Stones Completed NCT00381849 Phase 1, Phase 2 Cystone;Sugar Pill (Placebo)
28 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remi Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
29 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
30 Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi's Anemia Completed NCT00005898 Phase 1, Phase 2 anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;fludarabine;methylprednisolone
31 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
32 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
33 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
34 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
35 Bucillamine Phase 2 Trial in Patients With Cystinuria Recruiting NCT02942420 Phase 2 Bucillamine
36 Lipoic Acid Supplement for Cystine Stone Recruiting NCT02910531 Phase 2 Placebo
37 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
38 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
39 Eltrombopag for People With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
40 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2 Plerixafor
41 Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1 Recruiting NCT02931071 Phase 2 filgrastim;plerixafor
42 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor Recruiting NCT02678533 Phase 1, Phase 2 G-CSF;Plerixafor
43 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
44 Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia Recruiting NCT00630253 Phase 1, Phase 2 Cyclophosphamide;Fludarabine;Methylprednisolone;Filgrastim;Cyclosporine;Mycophenolate Mofetil
45 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
46 Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02750618 Phase 2
47 Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH) Active, not recruiting NCT02312687 Phase 2
48 Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02163577 Phase 2
49 Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia Active, not recruiting NCT00453388 Phase 2 Cyclophosphamide;Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
50 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol

Search NIH Clinical Center for Renal Tubular Transport Disease

Cochrane evidence based reviews: renal tubular transport, inborn errors

Genetic Tests for Renal Tubular Transport Disease

Anatomical Context for Renal Tubular Transport Disease

MalaCards organs/tissues related to Renal Tubular Transport Disease:

41
Bone, Bone Marrow, Kidney, Myeloid, Testes, Liver, Lung

Publications for Renal Tubular Transport Disease

Variations for Renal Tubular Transport Disease

Expression for Renal Tubular Transport Disease

Search GEO for disease gene expression data for Renal Tubular Transport Disease.

Pathways for Renal Tubular Transport Disease

Pathways related to Renal Tubular Transport Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 ATP6V0A4 BSND CLCN5 CLCNKA CLCNKB SCNN1B
2
Show member pathways
12.31 CLCN5 SCNN1B SCNN1G SLC12A1 SLC12A3
3
Show member pathways
12.1 ATP6V0A4 BSND CLCN5 CLCNKA CLCNKB SCNN1B
4
Show member pathways
11.67 CLCN5 CLCNKA CLCNKB
5 11 KCNJ1 SCNN1B SCNN1G
6 10.98 SCNN1B SCNN1G
7 10.83 BSND CLCNKA CLCNKB KCNJ1 SCNN1B SCNN1G
8 10.48 SCNN1B SCNN1G

GO Terms for Renal Tubular Transport Disease

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 ATP6V0A4 BSND CLCN5 CLCNKA CLCNKB KCNJ1
2 integral component of plasma membrane GO:0005887 9.87 BSND CLCN5 CLCNKA CLCNKB SCNN1B SCNN1G
3 membrane GO:0016020 9.83 ATP6V0A4 BSND CLCN5 CLCNKA CLCNKB KCNJ1
4 apical part of cell GO:0045177 9.54 ATP6V0A4 CLCN5 REN
5 sodium channel complex GO:0034706 9.26 SCNN1B SCNN1G
6 apical plasma membrane GO:0016324 9.1 ATP6V0A4 SCNN1B SCNN1G SLC12A1 SLC12A3 STK39

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.97 CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A3
2 sodium ion transport GO:0006814 9.81 SCNN1B SCNN1G SLC12A1 SLC12A3
3 ion transmembrane transport GO:0034220 9.81 ATP6V0A4 BSND CLCN5 CLCNKA CLCNKB KCNJ1
4 regulation of ion transmembrane transport GO:0034765 9.78 CLCNKA CLCNKB KCNJ1
5 sodium ion transmembrane transport GO:0035725 9.78 SCNN1B SCNN1G SLC12A1 SLC12A3
6 chloride transport GO:0006821 9.77 BSND CLCN5 CLCNKA CLCNKB WNK4
7 chloride transmembrane transport GO:1902476 9.73 BSND CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A3
8 potassium ion import GO:0010107 9.71 KCNJ1 SLC12A1 SLC12A3
9 ion transport GO:0006811 9.7 ATP6V0A4 CLCN5 CLCNKA CLCNKB KCNJ1 SCNN1B
10 ion homeostasis GO:0050801 9.63 KLHL3 STK39 WNK4
11 sodium ion homeostasis GO:0055078 9.62 SCNN1B SCNN1G SLC12A1 SLC12A3
12 positive regulation of ion transmembrane transporter activity GO:0032414 9.61 STK39 WNK1 WNK4
13 cell volume homeostasis GO:0006884 9.6 SLC12A1 SLC12A3
14 potassium ion homeostasis GO:0055075 9.59 SLC12A1 SLC12A3
15 regulation of cellular process GO:0050794 9.58 WNK1 WNK4
16 negative regulation of pancreatic juice secretion GO:0090188 9.58 STK39 WNK1 WNK4
17 chloride ion homeostasis GO:0055064 9.57 SLC12A1 SLC12A3
18 multicellular organismal water homeostasis GO:0050891 9.56 SCNN1B SCNN1G
19 renal sodium ion absorption GO:0070294 9.55 KLHL3 WNK4
20 signal transduction by trans-phosphorylation GO:0023016 9.52 STK39 WNK1
21 distal tubule morphogenesis GO:0072156 9.49 KLHL3 WNK4
22 excretion GO:0007588 9.17 ATP6V0A4 CLCN5 CLCNKA CLCNKB KCNJ1 SCNN1B

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

# Name GO ID Score Top Affiliating Genes
1 WW domain binding GO:0050699 9.48 SCNN1B SCNN1G
2 chloride channel inhibitor activity GO:0019869 9.46 WNK1 WNK4
3 ligand-gated sodium channel activity GO:0015280 9.43 SCNN1B SCNN1G
4 potassium:chloride symporter activity GO:0015379 9.4 SLC12A1 SLC12A3
5 cation:chloride symporter activity GO:0015377 9.37 SLC12A1 SLC12A3
6 sodium ion transmembrane transporter activity GO:0015081 9.32 SLC12A1 SLC12A3
7 sodium:potassium:chloride symporter activity GO:0008511 9.26 SLC12A1 SLC12A3
8 chloride channel activity GO:0005254 9.26 BSND CLCN5 CLCNKA CLCNKB
9 sodium:chloride symporter activity GO:0015378 9.16 SLC12A1 SLC12A3
10 voltage-gated chloride channel activity GO:0005247 8.92 BSND CLCN5 CLCNKA CLCNKB

Sources for Renal Tubular Transport Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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34 ICD10 via Orphanet
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38 LifeMap
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45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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