MCID: PST041
MIFTS: 50

Posterior Urethral Valves malady

Rare diseases, Nephrological diseases, Fetal diseases categories

Aliases & Classifications for Posterior Urethral Valves

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Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Posterior Urethral Valves, Aliases & Descriptions:

Name: Posterior Urethral Valves 41
Congenital Posterior Urethral Valves 60
 
Posterior Urethral Valve 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Nephrological diseases


Characteristics (Orphanet epidemiological data):

47
posterior urethral valve:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood


External Ids:

Orphanet47 93110
ICD10 via Orphanet26 Q64.2
UMLS via Orphanet61 C0238506, C0542520
ICD1025 Q64.2

Summaries for Posterior Urethral Valves

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Wikipedia:63 Posterior urethral valve (PUV) disorder is an obstructive developmental anomaly in the urethra and... more...

MalaCards based summary: Posterior Urethral Valves, also known as congenital posterior urethral valves, is related to vesicoureteral reflux and urinary tract obstruction. An important gene associated with Posterior Urethral Valves is AGTR2 (angiotensin II receptor, type 2), and among its related pathways are A-beta Uptake and Degradation and A-beta Plaque Formation and APP Metabolism. The compounds cgp42112a and etoperidone have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and prostate, and related mouse phenotypes are tumorigenesis and respiratory system.

Related Diseases for Posterior Urethral Valves

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Diseases related to Posterior Urethral Valves via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1vesicoureteral reflux31.4AGTR2, AGT, AGTR1
2urinary tract obstruction31.3ACE
3arthritis30.3TNF, IL6
4kidney disease29.7AGTR1, TNF, TGFB1, IL6, AGT
5urethritis11.6
6down syndrome10.6
7urethral stricture10.5
8renal dysplasia10.5
9orchitis10.4
10ureterocele10.4
11epididymo-orchitis10.4
12orthostatic intolerance10.4AGTR1
13malaria10.4TNF
14floating-harbor syndrome10.4
15kindler syndrome10.4
16cryptorchidism10.4
17eagle-barrett syndrome10.4
18renal tubular acidosis10.4
19hypospadias10.4
20urethral diverticulum10.4
21imperforate anus10.4
22bladder neck obstruction10.4
23prostatitis10.4
24epididymitis10.4
25crohn's disease10.3TNF
26renal tubular dysgenesis10.3AGTR1, AGT
27conn's syndrome10.3AGTR1, AGTR2
28renovascular hypertension10.2AGTR1, ACE
29hypertensive heart disease10.2ACE, AGTR1
30epidermolysis bullosa, junctional, non-herlitz type10.2
31congenital anomalies of kidney and urinary tract10.2
32alstrom syndrome10.2
33beckwith-wiedemann syndrome10.2
34silver-russell syndrome10.2
35williams-beuren syndrome10.2
36urofacial syndrome 110.2
37townes-brocks syndrome10.2
38mckusick-kaufman syndrome10.2
39frontometaphyseal dysplasia10.2
40vacterl association10.2
41hypersensitivity syndrome, carbamazepine-induced10.2
42hand-foot-uterus syndrome10.2
43pseudohermaphroditism, male, with gynecomastia10.2
44meckel syndrome 110.2
45end stage renal failure10.2
46hepatitis10.2
47hepatitis b10.2
48pseudohypoaldosteronism10.2
49sinusitis10.2
50dyskeratosis congenita10.2

Graphical network of the top 20 diseases related to Posterior Urethral Valves:



Diseases related to posterior urethral valves

Symptoms for Posterior Urethral Valves

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Drugs & Therapeutics for Posterior Urethral Valves

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Drug clinical trials:

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Search NIH Clinical Center for Posterior Urethral Valves

Genetic Tests for Posterior Urethral Valves

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Anatomical Context for Posterior Urethral Valves

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MalaCards organs/tissues related to Posterior Urethral Valves:

31
Lung, Kidney, Prostate, Spinal cord, Testes

Animal Models for Posterior Urethral Valves or affiliated genes

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MGI Mouse Phenotypes related to Posterior Urethral Valves:

35 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020067.9TNF, TGFB1, ACE, IL6, AGTR2
2MP:00053887.9IL6, ACE2, TGFB1, TNF
3MP:00053817.9TNF, TGFB1, IL6, AGTR2
4MP:00053707.9TNF, TGFB1, ACE, IL6, AGT
5MP:00036317.8AGT, AGTR2, IL6, TGFB1, TNF
6MP:00053797.7TNF, TGFB1, ACE, IL6, AGTR2
7MP:00053757.6TNF, TGFB1, ACE, IL6, AGTR2, AGT
8MP:00053677.5TGFB1, ACE2, ACE, IL6, AGTR2, AGT
9MP:00053697.5TNF, TGFB1, ACE2, IL6, AGTR2, AGT
10MP:00053867.5TNF, TGFB1, ACE, IL6, AGTR2, AGT
11MP:00053877.4TNF, TGFB1, ACE, IL6, AGT, AGTR1
12MP:00053847.3TNF, TGFB1, ACE2, ACE, IL6, AGTR2
13MP:00053787.1TNF, TGFB1, ACE, IL6, AGTR2, AGT
14MP:00053856.7AGTR1, TNF, TGFB1, ACE2, ACE, IL6
15MP:00053766.7TNF, TGFB1, ACE2, ACE, IL6, AGTR2
16MP:00107686.7TNF, TGFB1, ACE2, ACE, IL6, AGTR2

Publications for Posterior Urethral Valves

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Articles related to Posterior Urethral Valves:

(show top 50)    (show all 524)
idTitleAuthorsYear
1
Neonatal presentation of posterior urethral valves and tethered spinal cord. (25073498)
2014
2
Urinary tract tuberculosis in a child with late presentation posterior urethral valves. (24529021)
2014
3
Renal Parenchymal Area and Risk of ESRD in Boys with Posterior Urethral Valves. (24311709)
2013
4
Posterior urethral valves: determinants of outcome in a developing country. (23331631)
2013
5
Posterior urethral valves: Persistent renin angiotensin system activation after valve ablation and role of pre-emptive therapy with angiotensin converting enzyme-inhibitors on renal recovery. (23798811)
2013
6
Posterior Urethral Valves; A single Center Experience. (24800012)
2013
7
Risk factors associated with chronic kidney disease in patients with posterior urethral valves without prenatal hydronephrosis. (21527193)
2011
8
A rare cause of ascites in a newborn: posterior urethral valve. (20158664)
2010
9
Etiopathogenesis and management of bladder dysfunction in patients with posterior urethral valves. (21369376)
2010
10
A follow-up study of children with posterior urethral valve. (20835319)
2010
11
Prognostic value of serum creatinine levels in children with posterior urethral valves treated by primary valve ablation. (19581129)
2010
12
Posterior urethral valves: a single center experience over 7 years. (19184051)
2009
13
Abnormal antenatal sonogram: an indicator of disease severity in children with posterior urethral valves. (19632082)
2009
14
Posterior urethral valves are often associated with cryptorchidism and inguinal hernias. (18554641)
2008
15
Concordant posterior urethral valves in male monochorionic twins with secondary prune belly syndrome. (19213520)
2008
16
Re: The effects of bladder neck incision on urodynamic abnormalities of children with posterior urethral valves. A. M. Kajbafzadeh, S. Payabvash and G. Karimian. J Urol 2007; 178: 2142-2149. (18436260)
2008
17
Posterior urethral valves in three siblings: a case report and review of the literature. (18240166)
2008
18
Renal transplantation in children with posterior urethral valves. (16491414)
2006
19
The impact of late presentation of posterior urethral valves on bladder and renal function. (16600793)
2006
20
Long-term followup of bilateral high (sober) urinary diversion in patients with posterior urethral valves and its effect on bladder function. (15821568)
2005
21
Myogenic bladder decompensation in boys with a history of posterior urethral valves is caused by secondary bladder neck obstruction? (15963137)
2005
22
Initial and long-term management of posterior urethral valves. (15558286)
2004
23
Long-term outcome of posterior urethral valves ablation using the Mohan's urethral valvotome. (15171523)
2004
24
Posterior urethral valves: prognostic factors. (12699486)
2003
25
Incidental adult posterior urethral valve without clinical features. (15072500)
2003
26
Posterior urethral valves and mirror image anomalies in monozygotic twins. (12210353)
2002
27
Xanthogranulomatous pyelonephritis in a dysplastic kidney with reflux associated with posterior urethral valves. (11832763)
2002
28
Prospective analysis of renal function and somatic growth in neonatal posterior urethral valves. (12369006)
2002
29
Posterior urethral valves. (12696266)
2002
30
Posterior urethral valves. (11294257)
2001
31
Increased urinary transforming growth factor-beta(1) excretion in children with posterior urethral valves. (10925100)
2000
32
The long-term complications of posterior urethral valves. (10330919)
1999
33
Applications of the KTP laser in the treatment of posterior urethral valves, ureteroceles, and urethral strictures in the pediatric patient. (9728129)
1998
34
The management of unilateral poorly functioning kidneys in patients with posterior urethral valves. (9258129)
1997
35
The long-term outcome of posterior urethral valves treated with primary valve ablation and observation. (8627873)
1996
36
Long-term bladder dysfunction in boys with posterior urethral valves. (8877354)
1996
37
Mercapto-acetyltriglycine (MAG 3) renography and indirect radionuclide cystography in posterior urethral valves. (7827852)
1994
38
Re: Delayed presentation of posterior urethral valves. S. A. Merchant et al. Br. J. Urol., 69, 318-319, 1992. (10071574)
1993
39
Unusual presentation of adult posterior urethral valve. (1422693)
1992
40
Re: Renal transplantation in children with posterior urethral valves. (1294129)
1992
41
Influence of initial therapy on progression of renal failure and body growth in children with posterior urethral valves. (1640516)
1992
42
99mTc DTPA scintigraphy compared with intravenous urography in the follow-up of posterior urethral valves. (3322473)
1987
43
Posterior urethral valves in Saudi Arabia. (3833844)
1985
44
Posterior urethral valves in the British Isles: a multicenter B.A.P.S. review. (6834230)
1983
45
Observations on persistently dilated ureter after posterior urethral valve ablation. (7112792)
1982
46
Major and minor complications of posterior urethral valves. (7288943)
1981
47
The protean aspects of posterior urethral valves. (7321118)
1981
48
Nursing care study - posterior urethral valves. A sick baby makes a fresh start. (6898045)
1980
49
Posterior urethral valves in siblings. (1268469)
1976
50
3 case reports of posterior urethral valves with varied presentations. (1021125)
1976

Variations for Posterior Urethral Valves

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Expression for genes affiliated with Posterior Urethral Valves

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Search GEO for disease gene expression data for Posterior Urethral Valves.

Pathways for genes affiliated with Posterior Urethral Valves

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Pathways related to Posterior Urethral Valves according to GeneCards Suite gene sharing:

(show all 41)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5ACE, ACE2
29.5ACE, ACE2
39.3IL6, TGFB1
4
Show member pathways
9.3IL6, TGFB1
5
Show member pathways
9.3IL6, TGFB1
6
Show member pathways
Serotonin Transporter Activity36
9.3TNF, AGT
79.1TNF, TGFB1
89.1TNF, TGFB1
9
Show member pathways
9.1TGFB1, TNF
10
Show member pathways
9.1ACE2, ACE, AGT
119.0TNF, IL6
129.0TNF, IL6
139.0IL6, TNF
149.0TNF, IL6
159.0IL6, TNF
169.0IL6, TNF
179.0TNF, IL6
188.8TNF, TGFB1, AGT
19
Show member pathways
8.8AGT, TGFB1, TNF
20
Show member pathways
IL23-mediated signaling events36
Immune response IL 10 signaling pathway58
Angiopoietin receptor Tie2-mediated signaling36
Development PDGF signaling via STATs and NF kB58
Development Angiopoietin Tie2 signaling58
8.6TNF, IL6, AGTR1
21
Show member pathways
8.6AGT, AGTR2, IL6, TGFB1
22
Show member pathways
8.5TNF, TGFB1, IL6
23
Show member pathways
8.5IL6, TGFB1, TNF
248.5IL6, TGFB1, TNF
258.5IL6, TGFB1, TNF
26
Show member pathways
8.5IL6, TGFB1, TNF
27
Show member pathways
IL27-mediated signaling events36
8.5TNF, TGFB1, IL6
288.5IL6, TGFB1, TNF
298.5IL6, TGFB1, TNF
308.5TNF, TGFB1, IL6
318.5IL6, TGFB1, TNF
32
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
8.5TNF, TGFB1, IL6
338.5IL6, TGFB1, TNF
34
Show member pathways
8.5IL6, TGFB1, TNF
358.5IL6, TGFB1, TNF
368.1TNF, TGFB1, IL6, AGT
37
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
8.1IL6, ACE, TGFB1, TNF
38
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
8.1TNF, TGFB1, ACE, IL6
39
Show member pathways
7.8AGTR1, AGT, AGTR2, ACE, ACE2, TGFB1
40
Show member pathways
7.7TGFB1, ACE, IL6, AGTR2, AGT, AGTR1
41
Show member pathways
7.4TNF, TGFB1, IL6, AGTR2, AGT, AGTR1

Compounds for genes affiliated with Posterior Urethral Valves

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Compounds related to Posterior Urethral Valves according to GeneCards Suite gene sharing:

(show top 50)    (show all 159)
idCompoundScoreTop Affiliating Genes
1cgp42112a439.7AGTR2, AGTR1, AGT
2etoperidone439.7AGTR1, AGTR2
3aliskiren43 1210.6ACE, AGT, AGTR1
4angiotensin iii289.6AGTR2, AGTR1
5eprosartan43 28 1211.6ACE, AGTR1, AGT
6olmesartan43 28 1211.6AGTR1, ACE, AGT
7chymostatin439.6AGT, AGTR1, ACE
8atenolol43 49 28 24 1213.5AGT, AGTR1, ACE
9diltiazem43 28 49 1212.5AGTR1, ACE, AGT
10enalaprilat439.5ACE, ACE2, AGT
11hydrochlorothiazide43 28 49 24 1213.5ACE, AGTR1, AGT
12eplerenone43 59 28 1212.4ACE, AGTR1, ACE2
13spironolactone43 59 28 49 1213.4ACE, AGTR2, AGTR1
14amlodipine43 49 24 1212.4ACE, AGTR1, AGT
15saralasin439.3AGTR1, AGT, AGTR2, ACE
16pd12331943 2810.3AGTR2, AGTR1, ACE, AGT
17valsartan43 59 28 1212.3AGTR1, AGT, AGTR2, ACE
18telmisartan43 28 1211.3AGTR1, ACE, AGTR2, AGT
19temocaprilat439.3AGTR1, ACE
20irbesartan43 28 49 1212.3AGTR2, AGTR1, ACE, AGT
21enalapril43 49 1211.3AGTR1, AGT, ACE, AGTR2
22angiotensin ii28 2410.2AGTR1, AGTR2, ACE, ACE2
23benazepril43 49 1211.2AGTR1, TGFB1, AGT, ACE
24lisinopril43 49 24 1212.1AGTR1, AGT, ACE, ACE2
25perindopril43 49 1211.1ACE, TGFB1, AGTR1, AGT
26nifedipine43 28 49 1212.0ACE, AGT, AGTR1, TGFB1
27ramipril43 1210.0AGTR1, ACE2, TGFB1, ACE
28candesartan43 49 28 1211.8AGTR2, ACE, TGFB1, AGT, AGTR1
29ang ii438.8TGFB1, AGTR1, ACE, AGT, AGTR2
30captopril43 59 49 28 1212.8AGTR1, ACE2, ACE, AGTR2, AGT
31losartan43 49 28 1211.8TGFB1, ACE, AGT, AGTR1, AGTR2
328-isoprostane438.7TNF, AGTR1, IL6
33gm-csf43 289.7IL6, TGFB1, TNF
34norepinephrine43 24 1210.6AGT, AGTR1, ACE, AGTR2, IL6
35atorvastatin43 49 28 24 1212.5ACE, AGT, IL6, TNF
36simvastatin43 49 59 28 24 1213.5TNF, AGT, IL6, AGTR1
37prostacyclin438.5ACE, AGTR2, TNF, AGT, AGTR1
38rosiglitazone28 43 49 24 1212.4TGFB1, TNF, AGTR1, IL6
39tgf beta1438.4AGTR1, TGFB1, IL6, TNF
40superoxide43 249.3AGTR1, AGT, AGTR2, ACE2, TNF
41prostaglandin438.3TNF, AGTR2, AGT, IL6, AGTR1
42cholesterol43 28 24 1211.2ACE2, AGTR1, ACE, IL6, AGT
43indomethacin43 28 59 1211.2AGTR2, IL6, TGFB1, TNF, AGT
44creatinine438.2AGTR1, AGTR2, AGT, ACE, TGFB1, IL6
45sb 20358043 599.1IL6, TNF, TGFB1, AGT, AGTR1
46actinomycin d438.1TNF, AGTR1, IL6, AGT, TGFB1
47cycloheximide438.0AGTR1, IL6, AGTR2, TGFB1, TNF
48cyclosporin a43 28 599.8TGFB1, AGTR1, AGT, TNF, IL6, AGTR2
49dexamethasone43 49 28 1210.7IL6, AGT, TNF, AGTR1, TGFB1
50nitric oxide43 24 129.3TNF, IL6, AGTR2, AGTR1, AGT, ACE

GO Terms for genes affiliated with Posterior Urethral Valves

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Cellular components related to Posterior Urethral Valves according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00099868.6ACE2, TGFB1, TNF
2external side of plasma membraneGO:00098978.5IL6, ACE, TNF
3extracellular spaceGO:00056157.2TNF, TGFB1, ACE2, ACE, IL6, AGT
4plasma membraneGO:00058867.1TNF, TGFB1, ACE2, ACE, AGTR2, AGTR1
5extracellular regionGO:00055766.9AGT, TNF, TGFB1, ACE2, ACE, IL6

Biological processes related to Posterior Urethral Valves according to GeneCards Suite gene sharing:

(show top 50)    (show all 76)
idNameGO IDScoreTop Affiliating Genes
1cell growth involved in cardiac muscle cell developmentGO:006104910.2AGTR2, AGT
2negative regulation of neurotrophin TRK receptor signaling pathwayGO:005138710.1AGT, AGTR2
3cellular sodium ion homeostasisGO:000688310.1AGTR2, AGT
4positive regulation of NAD(P)H oxidase activityGO:003386410.1AGT, AGTR1
5angiotensin-activated signaling pathwayGO:003816610.1AGTR1, AGTR2
6regulation of blood vessel size by renin-angiotensinGO:000203410.1AGT, AGTR1
7regulation of renal sodium excretionGO:003581310.1AGTR1, AGT
8regulation of renal output by angiotensinGO:000201910.1AGT, ACE
9G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messengerGO:000719910.0AGTR2, AGT
10positive regulation of cholesterol esterificationGO:001087310.0AGT, AGTR1
11angiotensin-mediated drinking behaviorGO:000305110.0ACE2, AGT
12positive regulation of renal sodium excretionGO:00358159.9AGTR2, AGT
13low-density lipoprotein particle remodelingGO:00343749.9AGT, AGTR1
14mononuclear cell proliferationGO:00329439.9ACE, TGFB1
15positive regulation of superoxide anion generationGO:00329309.9TGFB1, AGT
16angiotensin catabolic process in bloodGO:00020059.9ACE2, ACE
17cellular response to dexamethasone stimulusGO:00715499.9AGTR2, TGFB1
18negative regulation of blood vessel endothelial cell migrationGO:00435379.8AGTR2, TGFB1
19positive regulation of macrophage derived foam cell differentiationGO:00107449.8AGTR1, AGT
20renin-angiotensin regulation of aldosterone productionGO:00020189.8AGTR1, AGT, AGTR2
21nitric oxide mediated signal transductionGO:00072639.8AGTR2, AGT
22blood vessel remodelingGO:00019749.7ACE, AGTR2, AGT
23positive regulation of branching involved in ureteric bud morphogenesisGO:00901909.7AGT, AGTR2, TGFB1
24positive regulation of cellular protein metabolic processGO:00322709.6TGFB1, AGT, AGTR1
25positive regulation of reactive oxygen species metabolic processGO:020003799.6ACE2, AGT, AGTR1
26kidney developmentGO:00018229.6AGTR1, AGT, ACE
27angiotensin maturationGO:00020039.6ACE2, ACE, AGT
28regulation of systemic arterial blood pressure by renin-angiotensinGO:00030819.5ACE2, ACE, AGTR1
29regulation of vasodilationGO:00423129.5AGTR1, ACE, ACE2
30receptor biosynthetic processGO:00328009.5TNF, ACE2
31negative regulation of cell growthGO:00303089.5AGT, AGTR2, TGFB1
32regulation of cell proliferationGO:00421279.5AGTR1, AGT, ACE2
33response to salt stressGO:00096519.4TNF, AGT
34epithelial cell proliferation involved in salivary gland morphogenesisGO:00606649.4TNF, IL6
35positive regulation of protein complex assemblyGO:00313349.4TGFB1, TNF
36negative regulation of lipid storageGO:00108889.4TNF, IL6
37positive regulation of cytokine secretionGO:00507159.3AGTR2, TNF
38agingGO:00075689.3TGFB1, IL6, AGT
39positive regulation of cytokine productionGO:00018199.2AGT, TNF
40regulation of vasoconstrictionGO:00192299.2AGTR1, AGT, ACE, ACE2
41positive regulation of nitric oxide biosynthetic processGO:00454299.1AGTR2, IL6, TNF
42positive regulation of chemokine productionGO:00327229.1IL6, TNF
43negative regulation of fat cell differentiationGO:00455998.9TNF, TGFB1, IL6
44positive regulation of peptidyl-serine phosphorylationGO:00331388.9TNF, TGFB1, IL6
45positive regulation of protein kinase B signalingGO:00518978.9TNF, TGFB1, IL6
46protein import into nucleus, translocationGO:00000608.8TGFB1, TNF
47positive regulation of NF-kappaB transcription factor activityGO:00510928.6TNF, TGFB1, IL6, AGT
48inflammatory responseGO:00069548.5TNF, TGFB1, IL6, AGTR2
49negative regulation of cell proliferationGO:00082858.5AGT, IL6, TGFB1, TNF
50positive regulation of transcription, DNA-templatedGO:00458938.2AGT, AGTR2, IL6, TGFB1, TNF

Molecular functions related to Posterior Urethral Valves according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1angiotensin type II receptor activityGO:00049459.9AGTR1, AGTR2
2bradykinin receptor bindingGO:00317119.8AGTR1, ACE
3peptidyl-dipeptidase activityGO:00082419.7ACE, ACE2
4carboxypeptidase activityGO:00041809.6ACE, ACE2
5peptide hormone bindingGO:00170469.5AGTR2, ACE2
6metallopeptidase activityGO:00082379.5ACE, ACE2
7endopeptidase activityGO:00041759.2ACE, ACE2
8growth factor activityGO:00080839.1TGFB1, IL6, AGT
9protein bindingGO:00055156.9TNF, TGFB1, ACE, IL6, AGTR2, AGT

Products for genes affiliated with Posterior Urethral Valves

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Sources for Posterior Urethral Valves

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet