CAKUT2
MCID: CNG499
MIFTS: 53

Congenital Anomalies of Kidney and Urinary Tract 2 (CAKUT2)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Congenital Anomalies of Kidney and Urinary Tract 2

MalaCards integrated aliases for Congenital Anomalies of Kidney and Urinary Tract 2:

Name: Congenital Anomalies of Kidney and Urinary Tract 2 58 76
Multicystic Renal Dysplasia, Bilateral 58 54 76 30 6 74
Ureteropelvic Junction Obstruction 58 12 76 15
Pelviureteric Junction Obstruction 58 76 13
Hydronephrosis Due to Pujo 58 54 76
Cakut2 58 12 76
Pujo 58 54 76
Upjo 58 76
Mcrd 58 76
Kidney and Urinary Tract, Anomalies, Congenital, Type 2 41
Congenital Anomalies of the Kidney and Urinary Tract 2 12
Multicystic Renal Dysplasia, Bilateral; Mcrd 58
Ureteropelvic Junction Obstruction; Upjo 58
Pelviureteric Junction Obstruction; Pujo 58
Obstruction of Pelviureteric Junction 74
Pelvi-Ureteric Junction Obstruction 54
Congenital Hydronephrosis 60
Mrd 54

Characteristics:

Orphanet epidemiological data:

60
congenital hydronephrosis
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
some patients may be asymptomatic
variable age at onset (range prenatal to mid-adulthood)
some patients may need surgery or renal transplant
four unrelated families have been reported (last curated september 2015)


HPO:

33
congenital anomalies of kidney and urinary tract 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Congenital Anomalies of Kidney and Urinary Tract 2

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97364Disease definitionBilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.EpidemiologyThe prevalence and incidence of bilateral MCDK are unknown.Clinical descriptionBilateral MCDK may be suspected antenatally at routine ultrasound scans, with the majority detected around the 20th week of gestation. It is considered a lethal entity, and most pregnancies are terminated. When born, such infants present with features of the Potter sequence (constellation of signs resulting from prolonged in utero oligohydramnios) including severe pulmonary hypoplasia and severe renal failure, limb anomalies and facial dysmorphic features, and generally die shortly after birth.EtiologyMCDK results from disrupted nephrogenesis but the exact pathogenic mechanism is still unknown. Disturbed formation of nephrons could result from impaired fetal urine flow early in development. Mutations in the HNF1B gene (17q12), coding for hepatocyte nuclear transcription factor 1β, are known to cause unilateral MCDK and have only rarely been reported for bilateral cases. MCDK is also linked to gestational diabetes and to the use of some medications during pregnancy, such as anti-epileptic drugs.Visit the Orphanet disease page for more resources.

MalaCards based summary : Congenital Anomalies of Kidney and Urinary Tract 2, also known as multicystic renal dysplasia, bilateral, is related to hydronephrosis and urinary tract obstruction, and has symptoms including flank pain An important gene associated with Congenital Anomalies of Kidney and Urinary Tract 2 is TBX18 (T-Box 18), and among its related pathways/superpathways are Regulation of Telomerase and Lung fibrosis. The drugs Lamivudine and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include kidney, myeloid and t cells, and related phenotypes are hydronephrosis and congenital megaureter

Disease Ontology : 12 A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter.

OMIM : 58 Congenital anomalies of the kidneys and urinary tract (CAKUT) encompasses a spectrum of developmental disorders of the urinary tract that can range from mild vesicoureteral reflux to severe renal agenesis. Other phenotypes include renal duplication, small kidneys, ureteropelvic junction obstruction, hydronephrosis, and renal dysplasia. These abnormalities can result in kidney damage, and possibly renal failure (summary by Vivante et al., 2015). For a discussion of genetic heterogeneity of CAKUT, see 610805. (143400)

UniProtKB/Swiss-Prot : 76 Congenital anomalies of kidney and urinary tract 2: A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children.

Related Diseases for Congenital Anomalies of Kidney and Urinary Tract 2

Diseases in the Congenital Anomalies of Kidney and Urinary Tract 2 family:

Congenital Anomalies of Kidney and Urinary Tract 1 Congenital Anomalies of Kidney and Urinary Tract 3

Diseases related to Congenital Anomalies of Kidney and Urinary Tract 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 hydronephrosis 31.3 EGF TGFB1 TSHZ3
2 urinary tract obstruction 29.1 EGF TGFB1
3 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 11.7
4 congenital anomalies of kidney and urinary tract 1 11.6
5 bilateral multicystic dysplastic kidney 11.6
6 mesomelia-synostoses syndrome 11.1
7 leukemia 10.7
8 horseshoe kidney 10.6
9 vesicoureteral reflux 1 10.6
10 lymphocytic leukemia 10.6
11 leukemia, acute lymphoblastic 10.5
12 acute lymphocytic leukemia 10.4
13 nephrolithiasis 10.4
14 myeloid leukemia 10.4
15 myeloma, multiple 10.3
16 leukemia, acute myeloid 10.3
17 acute lymphoblastic leukemia, childhood 10.3
18 lymphoma 10.2
19 nephrolithiasis, calcium oxalate 10.2
20 retinoblastoma 10.2
21 wilms tumor 5 10.2
22 wilms tumor 6 10.2
23 myelomeningocele 10.2
24 acute cystitis 10.2
25 turner syndrome 10.2
26 duodenal obstruction 10.2
27 disseminated intravascular coagulation 10.1
28 angiomyolipoma 10.1
29 achalasia 10.1
30 familial vesicoureteral reflux 10.1
31 horns in sheep 10.1
32 childhood acute myeloid leukemia 10.1
33 diaphragmatic hernia, congenital 10.1
34 renal cell carcinoma, nonpapillary 10.1
35 mayer-rokitansky-kuster-hauser syndrome 10.1
36 gonadal agenesis 10.1
37 kawasaki disease 10.1
38 oligohydramnios 10.1
39 cystitis 10.1
40 lymphangiectasis 10.1
41 spondylocarpotarsal synostosis syndrome 10.0
42 hematopoietic stem cell transplantation 10.0
43 prolymphocytic leukemia 10.0
44 precursor t-cell acute lymphoblastic leukemia 10.0
45 blood group, colton system 10.0
46 lipomatosis, multiple 10.0
47 renal hypodysplasia/aplasia 1 10.0
48 renal dysplasia, cystic 10.0
49 crohn's disease 10.0
50 pleomorphic lipoma 10.0

Graphical network of the top 20 diseases related to Congenital Anomalies of Kidney and Urinary Tract 2:



Diseases related to Congenital Anomalies of Kidney and Urinary Tract 2

Symptoms & Phenotypes for Congenital Anomalies of Kidney and Urinary Tract 2

Human phenotypes related to Congenital Anomalies of Kidney and Urinary Tract 2:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydronephrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000126
2 congenital megaureter 60 33 frequent (33%) Frequent (79-30%) HP:0008676
3 abnormality of the cardiovascular system 60 33 occasional (7.5%) Occasional (29-5%) HP:0001626
4 polyhydramnios 60 33 occasional (7.5%) Occasional (29-5%) HP:0001561
5 oligohydramnios 60 33 occasional (7.5%) Occasional (29-5%) HP:0001562
6 renal insufficiency 33 occasional (7.5%) HP:0000083
7 nephrotic syndrome 33 HP:0000100
8 multicystic kidney dysplasia 33 HP:0000003
9 renal hypoplasia 33 HP:0000089
10 abnormality of the urinary system 60 Occasional (29-5%)
11 ureteropelvic junction obstruction 33 HP:0000074
12 hydroureter 33 HP:0000072
13 renal dysplasia 33 HP:0000110
14 flank pain 33 HP:0030157
15 cystic renal dysplasia 33 HP:0000800
16 renal sarcoma 33 HP:0008663

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Bladder:
ureteropelvic junction obstruction

Genitourinary:
flank pain

Genitourinary Kidneys:
hydronephrosis
renal dysplasia
hypoplastic kidneys
renal asymmetry
pelviectasis
more
Genitourinary Ureters:
megaureter

Clinical features from OMIM:

143400

UMLS symptoms related to Congenital Anomalies of Kidney and Urinary Tract 2:


flank pain

Drugs & Therapeutics for Congenital Anomalies of Kidney and Urinary Tract 2

Drugs for Congenital Anomalies of Kidney and Urinary Tract 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamivudine Approved, Investigational 134678-17-4 60825
2
Ropivacaine Approved Not Applicable 84057-95-4 175805 71273
3
Ibuprofen Approved Not Applicable 15687-27-1 3672
4 Natriuretic Agents Not Applicable
5 diuretics Not Applicable
6 Anesthetics Not Applicable
7 Central Nervous System Depressants Not Applicable
8 Peripheral Nervous System Agents Not Applicable
9 Anesthetics, Local Not Applicable
10 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
11 Cyclooxygenase Inhibitors Not Applicable
12 Antirheumatic Agents Not Applicable
13 Anti-Inflammatory Agents Not Applicable
14 Analgesics Not Applicable
15 Analgesics, Non-Narcotic Not Applicable
16 Anti-Bacterial Agents Not Applicable
17 Antibiotics, Antitubercular Not Applicable
18 Anti-Infective Agents Not Applicable
19 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Ureteropelvic Junction Obstruction in Early Childhood: Comparison of Surgical Therapy and Surveillance. A Prospective, Randomized, Controlled Multi-Center Study Unknown status NCT00444431 Not Applicable
2 The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients Unknown status NCT01711996
3 Dismembered Pyeloplasty With and Without After Coming Stent Completed NCT02138877 Not Applicable
4 CTT on Renogram as an Early Marker of Significant Obstruction in Uretero-pelvic Junction Syndrome Not yet recruiting NCT02812212 Not Applicable
5 Laparoscopic Pyeloplasty Registry and Database Completed NCT00169650
6 Determination of the "Tissue Transit Time" (TTT) Recruiting NCT03311256
7 Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Terminated NCT02713633 Not Applicable
8 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine Completed NCT00930046 Not Applicable
9 Comparison of Dynamic Contrast Enhanced CT and Diuretic Renogram in The Evaluation of UPJO Withdrawn NCT00199472
10 Clinical Significance of Supranormal Differential Renal Function in the Recovery of Hydronephrosis Completed NCT01839006
11 Randomized Trial of NSAID vs Placebo Prior to Ureteral Stent Removal Recruiting NCT02140970 Not Applicable Ibuprofen;Placebo
12 Ureteral Stent Versus Percutaneous Nephrostomy in Acutely Obstructed Infected Kidney Not yet recruiting NCT03498794 Not Applicable
13 Diagnostic Relevance of Laser Confocal Microscopy for the Screening of Upper Urinary Tract Tumors Completed NCT02276924 Not Applicable
14 Stereotactic Body Radiation Therapy Versus Radiofrequency Ablation for Small Renal Masses Not yet recruiting NCT03811665 Not Applicable
15 Renal Anhydramnios Fetal Therapy Recruiting NCT03101891 Not Applicable Isotonic fluid

Search NIH Clinical Center for Congenital Anomalies of Kidney and Urinary Tract 2

Genetic Tests for Congenital Anomalies of Kidney and Urinary Tract 2

Genetic tests related to Congenital Anomalies of Kidney and Urinary Tract 2:

# Genetic test Affiliating Genes
1 Multicystic Renal Dysplasia, Bilateral 30 TBX18

Anatomical Context for Congenital Anomalies of Kidney and Urinary Tract 2

MalaCards organs/tissues related to Congenital Anomalies of Kidney and Urinary Tract 2:

42
Kidney, Myeloid, T Cells, Endothelial, Monocytes

Publications for Congenital Anomalies of Kidney and Urinary Tract 2

Articles related to Congenital Anomalies of Kidney and Urinary Tract 2:

(show top 50) (show all 175)
# Title Authors Year
1
Hydronephrosis severity score in management of ureteropelvic junction obstruction in children. ( 30797680 )
2019
2
Ureteropelvic Junction Obstruction Underlying Pyelonephritis in an Adult. ( 30210133 )
2019
3
Co-Existing Pediatric Ureteropelvic Junction Obstruction and Vesicoureteric Reflux: Prevalence and Implications. ( 31105396 )
2019
4
Advances in robotic surgery for pediatric ureteropelvic junction obstruction and vesicoureteral reflux: history, present, and future. ( 30953140 )
2019
5
Comparison of the F+20 and F-15 Diuresis Technetium-99m Diethylenetriaminepentacetate Renography Protocols for Diagnosis of Ureteropelvic Junction Obstruction in Adult Patients with Hydronephrosis. ( 29430113 )
2018
6
Hydronephrosis From Ureteropelvic Junction Obstruction Discovered on Point-of-Care Ultrasound in Patients With Trauma. ( 29509651 )
2018
7
Predictive Factors of Contralateral Operation after Initial Pyeloplasty in Children with Antenatally Detected Bilateral Hydronephrosis Due to Ureteropelvic Junction Obstruction. ( 29518792 )
2018
8
Ureteropelvic junction obstruction - mimicking an "elephant head" on magnetic resonance imaging. ( 29343921 )
2018
9
Predictors of Recoverability of Renal Function after Pyeloplasty in Adults with Ureteropelvic Junction Obstruction. ( 29346779 )
2018
10
A peripelvic renal cyst resulting in clinically symptomatic ureteropelvic junction obstruction. ( 29321973 )
2018
11
Hydronephrosis in the course of ureteropelvic junction obstruction: An underestimated problem? Current opinions on the pathogenesis, diagnosis and treatment. ( 29068584 )
2017
12
Is it Always Necessary to Treat an Asymptomatic Hydronephrosis Due to Ureteropelvic Junction Obstruction? ( 28466405 )
2017
13
Ureteropelvic Junction Obstruction and Parathyroid Adenoma: Coincidence or Link? ( 29181209 )
2017
14
To screen or not to screen for vesicoureteral reflux in children with ureteropelvic junction obstruction: a systematic review. ( 27888411 )
2017
15
Laparoscopic ureterocalicostomy for ureteropelvic junction obstruction in a 10-year-old female patient: a case report. ( 28683770 )
2017
16
Reoperative Laparoscopic Ureteropelvic Junction Obstruction Repair in Children: Safety and Efficacy of the Technique. ( 27789217 )
2017
17
Percent of Tracer Clearance at 40 Minutes in MAG3 Renal Scans Is More Sensitive Than T1/2 for Symptomatic Ureteropelvic Junction Obstruction. ( 28161380 )
2017
18
Transmesenteric robot-assisted pyeloplasty for ureteropelvic junction obstruction in horseshoe kidney. ( 27286132 )
2016
19
Laparoscopic Pyeloplasty for Ureteropelvic Junction Obstruction in an Incompletely Duplicated Collecting System in a Patient with a Horseshoe Kidney. ( 27733990 )
2016
20
Giant hydronephrosis due to ureteropelvic junction obstruction: A rare case report, and a review of the literature. ( 27330757 )
2016
21
An innovative technique of robotic-assisted/laparoscopic re-pyeloplasty in horseshoe kidney in patients with failed previous pyeloplasty for ureteropelvic junction obstruction. ( 26675936 )
2016
22
Pyelocystostomy for treatment of recurrent nephrolithiasis and ureteropelvic junction obstruction in a pelvic kidney. ( 27705735 )
2016
23
Transitional cell carcinoma: A rare development in congenital ureteropelvic junction obstruction kidney. ( 26941502 )
2016
24
Imaging for Vesicoureteral Reflux and Ureteropelvic Junction Obstruction. ( 28723527 )
2016
25
Is urine intercellular adhesion molecule-1 a marker of renal disorder in children with ureteropelvic junction obstruction? ( 26631256 )
2016
26
Sonic hedgehog, TBX18, and TSHZ3 proteins involved in pyeloureteral motility development are overexpressed in ureteropelvic junction obstruction. An immunohistochemical, histopathological, and clinical comparative study. ( 27381532 )
2016
27
Comparison Between Diuretic Urography (IVP) and Diuretic Renography for Diagnosis of Ureteropelvic Junction Obstruction in Children. ( 26848379 )
2016
28
Use of Contrasted Computerized Tomography as a Surrogate for Nuclear Medicine Renogram to Categorize Renal Function in the Setting of Ureteropelvic Junction Obstruction. ( 27450941 )
2016
29
Unusual Presentation of Duplex Kidneys: Ureteropelvic Junction Obstruction. ( 27829833 )
2016
30
Spontaneous large renal pelvis hematoma in ureteropelvic junction obstruction presenting as an acute abdomen: Rare case report. ( 27141202 )
2016
31
Hydronephrosis: Comparison of extrinsic vessel versus intrinsic ureteropelvic junction obstruction groups and a plea against the vascular hitch procedure. ( 25794866 )
2015
32
Massive Hydronephrosis from Ureteropelvic Junction Obstruction Masquerading as a Paratubal Cyst in an 11-Year-Old Girl. ( 25823721 )
2015
33
Delayed Presentation of Ureteropelvic Junction Obstruction and Loss of Renal Function After Initially Mild (SFU Grade 1-2) Hydronephrosis. ( 26051841 )
2015
34
Giant hydronephrosis secondary to ureteropelvic junction obstruction in adults: report of a case and review of literatures. ( 26064410 )
2015
35
Improved split renal function after percutaneous nephrostomy in young adults with severe hydronephrosis due to ureteropelvic junction obstruction. ( 25014578 )
2015
36
The effect of preoperative urinary tract infection on postoperative renal function in prenatally diagnosed ureteropelvic junction obstruction: Indications for the timing of pyeloplasty. ( 26427842 )
2015
37
Distal ureteral atresia with ureteropelvic junction obstruction in a female child: a rare case. ( 25785157 )
2015
38
Urine exoglycosidases are potential markers of renal tubular injury in children with ureteropelvic junction obstruction. ( 26095925 )
2015
39
Factors associated with age at pyeloplasty in children with ureteropelvic junction obstruction. ( 26143412 )
2015
40
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. ( 26235987 )
2015
41
Occult Congenital Ureteropelvic Junction Obstruction in Two Adults Presenting with Collecting System Rupture After Blunt Renal Trauma: A Case Report Series. ( 27579396 )
2015
42
Retroperitoneal laparoscopic management of ureteropelvic junction obstruction in patients with horseshoe kidney. ( 25242437 )
2014
43
Hydronephrosis after retroperitoneal laparoscopic dismembered Anderson-Hynes pyeloplasty in adult patients with ureteropelvic junction obstruction: A longitudinal analysis. ( 24982795 )
2014
44
Approach to kidney stones associated with ureteropelvic junction obstruction during laparoscopic pyeloplasty. ( 24757538 )
2014
45
Correction of ureteropelvic junction obstruction in children: national trends and comparative effectiveness in operative outcomes. ( 24372348 )
2014
46
Dynamic contrast-enhanced MR renography for renal function evaluation in ureteropelvic junction obstruction: feasibility study. ( 24660706 )
2014
47
Rapid and sustained recovery of renal function with transient placement of an intrauretral nephrostomy catheter in an infant with ureteropelvic junction obstruction and acute renal failure. ( 24684127 )
2014
48
Preliminary experience with laparoscopic Foley's YV plasty for ureteropelvic junction obstruction in children. ( 24761080 )
2014
49
Determination of the severity of ureteropelvic junction obstruction using urinary epidermal growth factor and kidney injury molecule 1 levels. ( 25525980 )
2014
50
Association of angiotensin type 2 receptor gene polymorphisms with ureteropelvic junction obstruction in Brazilian patients. ( 24995698 )
2014

Variations for Congenital Anomalies of Kidney and Urinary Tract 2

UniProtKB/Swiss-Prot genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 2:

76
# Symbol AA change Variation ID SNP ID
1 TBX18 p.Lys163Glu VAR_074629 rs797045022
2 TBX18 p.His524Tyr VAR_074631 rs760905589

ClinVar genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX18 NM_001080508.2(TBX18): c.1010del (p.Gly337Valfs) deletion Pathogenic rs869320679 GRCh37 Chromosome 6, 85448304: 85448304
2 TBX18 NM_001080508.2(TBX18): c.1010del (p.Gly337Valfs) deletion Pathogenic rs869320679 GRCh38 Chromosome 6, 84738586: 84738586
3 TBX18 NM_001080508.2(TBX18): c.1570C> T (p.His524Tyr) single nucleotide variant Pathogenic rs760905589 GRCh37 Chromosome 6, 85446657: 85446657
4 TBX18 NM_001080508.2(TBX18): c.1570C> T (p.His524Tyr) single nucleotide variant Pathogenic rs760905589 GRCh38 Chromosome 6, 84736939: 84736939
5 TBX18 NM_001080508.2(TBX18): c.487A> G (p.Lys163Glu) single nucleotide variant Pathogenic rs797045022 GRCh37 Chromosome 6, 85472272: 85472272
6 TBX18 NM_001080508.2(TBX18): c.487A> G (p.Lys163Glu) single nucleotide variant Pathogenic rs797045022 GRCh38 Chromosome 6, 84762554: 84762554

Expression for Congenital Anomalies of Kidney and Urinary Tract 2

Search GEO for disease gene expression data for Congenital Anomalies of Kidney and Urinary Tract 2.

Pathways for Congenital Anomalies of Kidney and Urinary Tract 2

Pathways related to Congenital Anomalies of Kidney and Urinary Tract 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.19 EGF TGFB1
2 11.12 EGF TGFB1
3 11.02 EGF TGFB1
4 10.88 KIT TGFB1
5 10.56 EGF LPP
6 10.48 EGF KIT TGFB1

GO Terms for Congenital Anomalies of Kidney and Urinary Tract 2

Biological processes related to Congenital Anomalies of Kidney and Urinary Tract 2 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.63 EGF KIT TGFB1
2 MAPK cascade GO:0000165 9.58 EGF KIT TGFB1
3 epidermal growth factor receptor signaling pathway GO:0007173 9.49 EGF TGFB1
4 T cell differentiation GO:0030217 9.48 KIT TGFB1
5 response to radiation GO:0009314 9.43 KIT TGFB1
6 digestive tract development GO:0048565 9.37 KIT TGFB1
7 positive regulation of protein kinase B signaling GO:0051897 9.33 EGF KIT TGFB1
8 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.32 KIT TGFB1
9 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.26 EGF TGFB1
10 germ cell migration GO:0008354 8.96 KIT TGFB1
11 positive regulation of MAP kinase activity GO:0043406 8.8 EGF KIT TGFB1

Sources for Congenital Anomalies of Kidney and Urinary Tract 2

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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46 MESH via Orphanet
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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