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VUR
MCID: VSC019
MIFTS: 59

Vesicoureteral Reflux 1 (VUR)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Vesicoureteral Reflux 1

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MalaCards integrated aliases for Vesicoureteral Reflux 1:

Name: Vesicoureteral Reflux 1 57 29
Vesicoureteral Reflux 57 12 37 29 13 55 6 15
Vesico-Ureteral Reflux 12 44 73
Reflux, Vesicoureteral, Type 1 40
Reflux, Vesicoureteral 40
Vur1 57
Vur 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant vs. multifactorial


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 193000
Disease Ontology 12 DOID:9620
ICD10 33 N13.7 N13.70
ICD9CM 35 593.7
MeSH 44 D014718
NCIt 50 C84467
SNOMED-CT 68 26836002
MedGen 42 C0042580
KEGG 37 H01037
SNOMED-CT via HPO 69 197811007
UMLS 73 C0042580
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Summaries for Vesicoureteral Reflux 1

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OMIM : 57 Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). (193000)

MalaCards based summary : Vesicoureteral Reflux 1, also known as vesicoureteral reflux, is related to congenital anomalies of kidney and urinary tract 2 and familial vesicoureteral reflux, and has symptoms including dysuria and urgency of micturition. An important gene associated with Vesicoureteral Reflux 1 is C12orf57 (Chromosome 12 Open Reading Frame 57), and among its related pathways/superpathways are Wnt signaling pathway and Renin secretion. Affiliated tissues include kidney, spinal cord and skin, and related phenotypes are abnormality of the skeletal system and vesicoureteral reflux

Disease Ontology : 12 A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.

Wikipedia : 76 Vesicoureteral reflux (VUR), also known as vesicoureteric reflux, is a condition in which urine flows... more...

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Related Diseases for Vesicoureteral Reflux 1

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Diseases in the Familial Vesicoureteral Reflux family:

Vesicoureteral Reflux 1 Vesicoureteral Reflux 2
Vesicoureteral Reflux 3 Vesicoureteral Reflux 4
Vesicoureteral Reflux 5 Vesicoureteral Reflux 6
Vesicoureteral Reflux 7 Vesicoureteral Reflux 8

Diseases related to Vesicoureteral Reflux 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 144)
# Related Disease Score Top Affiliating Genes
1 congenital anomalies of kidney and urinary tract 2 32.4 ROBO2 PLEKHF1
2 familial vesicoureteral reflux 32.1 SOX17 ROBO2 AGTR2
3 posterior urethral valves 31.2 AGTR2 AGTR1 AGT
4 multicystic dysplastic kidney 30.9 REN PAX2 AGTR2
5 urinary tract obstruction 30.8 UMOD REN NAGLU
6 chronic kidney failure 30.7 UMOD REN PAX2 AGTR1 AGT
7 renal dysplasia 30.6 REN PAX2 AGTR1 AGT
8 kidney disease 30.4 UMOD REN PAX2 NAGLU AMBP AGTR2
9 cakut 30.4 UMOD SOX17 PAX2 AGTR2
10 end stage renal failure 30.3 UMOD AGTR1 AGT
11 vesicoureteral reflux 2 12.7
12 vesicoureteral reflux 3 12.7
13 vesicoureteral reflux 8 12.6
14 vesicoureteral reflux 4 12.4
15 vesicoureteral reflux 5 12.4
16 vesicoureteral reflux 6 12.4
17 vesicoureteral reflux, x-linked 12.3
18 vesicoureteral reflux 7 12.3
19 papillorenal syndrome 12.1
20 kleefstra syndrome 11.5
21 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.2
22 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 11.2
23 urofacial syndrome 2 11.2
24 hypotonia, ataxia, and delayed development syndrome 11.2
25 autosomal recessive cutis laxa type i 11.2
26 collins pope syndrome 11.2
27 perrault syndrome 1 11.1
28 urofacial syndrome 1 11.0
29 phelan-mcdermid syndrome 11.0
30 congenital anomalies of kidney and urinary tract 1 11.0
31 renal hypodysplasia/aplasia 3 11.0
32 acute cystitis 11.0
33 neurogenic bladder 10.6
34 acute pyelonephritis 10.5
35 ureterocele 10.4
36 cystitis 10.4
37 polyhydramnios 10.3
38 renal dysplasia, cystic 10.3
39 potter's syndrome 10.3 REN AGT
40 renal artery disease 10.2 REN AGTR1 AGT
41 anuria 10.2 REN AGTR1 AGT
42 malignant hypertension 10.2 REN AGTR1 AGT
43 fibromuscular dysplasia 10.2 REN AGTR1 AGT
44 renal tubular dysgenesis 10.2 REN AGTR1 AGT
45 malignant secondary hypertension 10.2 REN AGTR2
46 familial hypertension 10.2 REN AGTR1 AGT
47 hypertensive nephropathy 10.2 NAGLU AMBP AGTR1
48 interstitial nephritis 10.2 UMOD REN AGT
49 xanthinuria, type i 10.2 UMOD NAGLU AMBP
50 obstructive nephropathy 10.2 REN AGTR2 AGT

Comorbidity relations with Vesicoureteral Reflux 1 via Phenotypic Disease Network (PDN):


Acute Cystitis Bladder Neck Obstruction
Chronic Kidney Failure Deficiency Anemia
Hydronephrosis Prostatic Hypertrophy

Graphical network of the top 20 diseases related to Vesicoureteral Reflux 1:



Diseases related to Vesicoureteral Reflux 1
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Symptoms & Phenotypes for Vesicoureteral Reflux 1

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Symptoms via clinical synopsis from OMIM:

57
G U:
vesicoureteral reflux
progressive renal damage if untreated

Radiology:
detection by radionuclide voiding cystography


Clinical features from OMIM:

193000

Human phenotypes related to Vesicoureteral Reflux 1:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the skeletal system 32 HP:0000924
2 vesicoureteral reflux 32 HP:0000076

UMLS symptoms related to Vesicoureteral Reflux 1:


dysuria, urgency of micturition

MGI Mouse Phenotypes related to Vesicoureteral Reflux 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.61 AGT AGTR1 AGTR2 MEOX2 NAGLU PAX2
2 renal/urinary system MP:0005367 9.32 AGT AGTR1 AGTR2 MEOX2 NAGLU PAX2
Sources

Drugs & Therapeutics for Vesicoureteral Reflux 1

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Search Clinical Trials , NIH Clinical Center for Vesicoureteral Reflux 1

Cochrane evidence based reviews: vesico-ureteral reflux

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Genetic Tests for Vesicoureteral Reflux 1

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Genetic tests related to Vesicoureteral Reflux 1:

# Genetic test Affiliating Genes
1 Vesicoureteral Reflux 29
2 Vesicoureteral Reflux 1 29
Sources

Anatomical Context for Vesicoureteral Reflux 1

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MalaCards organs/tissues related to Vesicoureteral Reflux 1:

41
Kidney, Spinal Cord, Skin, Adipocyte, Testes, Prostate, Heart
Sources

Publications for Vesicoureteral Reflux 1

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Articles related to Vesicoureteral Reflux 1:

(show top 50) (show all 1177)
# Title Authors Year
1
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. ( 29351342 )
2018
2
A meta-analysis of the incidence and fate of contralateral vesicoureteral reflux in unilateral multicystic dysplastic kidney. ( 30482499 )
2018
3
Late presentation of vesicoureteral reflux: An unusual cause of pyelonephritis in adults. ( 30428440 )
2018
4
Robot-assisted laparoscopic versus open ureteral reimplantation for pediatric vesicoureteral reflux: a systematic review and meta-analysis. ( 29374841 )
2018
5
Factors involved in the late failure of endoscopic treatment of vesicoureteral reflux. ( 29397210 )
2018
6
The effect of prior endoscopic correction of vesicoureteral reflux on open ureteral reimplantation: Surgical outcomes and costs. ( 29534861 )
2018
7
Endoscopic Injection of Dextranomer/Hyaluronic Acid as First Line Treatment in 851 Consecutive Children with High Grade Vesicoureteral Reflux: Efficacy and Long-Term Results. ( 29551405 )
2018
8
Prediction of vesicoureteral reflux in children with febrile urinary tract infection using relative uptake and cortical defect in DMSA scan. ( 29576374 )
2018
9
Endoscopic Treatment for Vesicoureteral Reflux in Recurrent Urinary Tract Infections in Kidney Transplant: Experience of One Center. ( 29579838 )
2018
10
Unexpected Vesicoureteral Reflux Into a Nonfunctioning Transplant Kidney on Renal Scintigraphy. ( 29659393 )
2018
11
Dextranomer/Hyaluronic Acid Calcification Masquerading as Distal Ureteral Calculi in a Patient Previously Treated for Vesicoureteral Reflux. ( 29675477 )
2018
12
Retrocaval Ureter Manifested after Ureteral Reimplantation for Ipsilateral Vesicoureteral Reflux: A Case Report. ( 29681048 )
2018
13
Randomized clinical trial between polyacrylate-polyalcohol copolymer (PPC) and dextranomer-hyaluronic acid copolymer (Dx/HA) as bulking agents for endoscopic treatment of primary vesicoureteral reflux (VUR). ( 29725806 )
2018
14
Predicting long-term renal damage in children with vesicoureteral reflux under conservative initial management: 205 cases in a tertiary referral center. ( 29732221 )
2018
15
Comparison of contrast-enhanced voiding urosonography with voiding cystourethrography in pediatric vesicoureteral reflux. ( 29733800 )
2018
16
New bulking agent for the treatment of vesicoureteral reflux: Polymethylmethacrylate/dextranomer. ( 29744479 )
2018
17
Historical bibliometric analysis of the top cited articles on vesicoureteral reflux 1950-2016, and incorporation of a novel impact index. ( 29776870 )
2018
18
Did our current initial treatment practice change after EAU/ESPU vesicoureteral reflux risk grouping? ( 29871762 )
2018
19
Delayed diagnosis of primary vesicoureteral reflux in children with recurrent urinary tract infections: Diagnostic approach and renal outcomes. ( 29875036 )
2018
20
Endoscopic Therapy for High Grade Vesicoureteral Reflux-First Line Therapy or Too Good to be True? ( 29935158 )
2018
21
Association of vesicoureteral reflux and renal scarring in urinary tract infections. ( 30016028 )
2018
22
Shear Wave Elastography in the Evaluation of the Kidneys in Pediatric Patients with Unilateral Vesicoureteral Reflux. ( 30027586 )
2018
23
Long-Term (>10 Years) Results After Endoscopic Injection Therapy for Vesicoureteral Reflux. ( 30036128 )
2018
24
Reduced differential renal function in scintigraphy predicted high-grade vesicoureteral reflux in children with antenatal hydronephrosiss. ( 30113092 )
2018
25
The Prevalence of Redo-Ureteroneocystostomy and Associated Risk Factors inPediatric Vesicoureteral Reflux Patients Treated with Ureteroneocystostomy. ( 30120762 )
2018
26
Primary vesicoureteral reflux; what have we learnt from the recently published randomized, controlled trials? ( 30132079 )
2018
27
Comparing treatment modalities for transplant kidney vesicoureteral reflux in the pediatric population. ( 30146426 )
2018
28
Evaluation of the intravesical ureters after failed endoscopic treatment of vesicoureteral reflux with dextranomer/hyaluronic acid in children via light and transmission electron microscopic analysis. A Matched Case-Control Study. ( 30178448 )
2018
29
A comparison between dextranomer/ hyaluronic acid and polyacrylate polyalcohol copolymer as bulking agents for treating primary vesicoureteral reflux. ( 30178456 )
2018
30
Impact of continuous low-dose antibiotic prophylaxis on growth in children with vesicoureteral reflux. ( 30181099 )
2018
31
Long-term Outcomes of Endoscopic Anti-reflux Surgery in Pediatric Patients with Vesicoureteral Reflux: Urinary Tract Infection, Renal Scarring, and Predictive Factors for Success. ( 30224908 )
2018
32
Streamlining risk stratification in infants and young children with spinal dysraphism: Vesicoureteral reflux and/or bladder trabeculations outperforms other urodynamic findings for predicting adverse outcomes. ( 30253979 )
2018
33
Fluid-structure interaction simulation of ureter with vesicoureteral reflux and primary obstructed megaureter. ( 30282337 )
2018
34
Dextranomer-Hyaluronic Acid and Polyacrylate-Polyalcohol Copolymer are Equally Efficient for Endoscopic Treatment of Vesicoureteral Reflux in Children. ( 30318569 )
2018
35
When does vesicoureteral reflux in pediatric kidney transplant patients need treatment? ( 30324753 )
2018
36
Positional installation of contrast (PIC) and Redo-PIC cystography for diagnosis of occult vesicoureteral reflux. ( 30325125 )
2018
37
The learning curve of sting method for endoscopic injection treatment of vesicoureteral reflux. ( 30325598 )
2018
38
Pelvic floor electromyography and urine flow patterns in children with vesicoureteral reflux and lower urinary tract symptoms. ( 30325607 )
2018
39
Changing bulking agent may require change in injection volume for endoscopic treatment of vesicoureteral reflux. ( 30325612 )
2018
40
Ureteral reimplantation for vesicoureteral reflux in a patient with trisomy 18. ( 30345697 )
2018
41
Can Freehand Elastosonography Be an Alternative to Renal Scintigraphy in Pediatric Vesicoureteral Reflux Cases? ( 30380572 )
2018
42
Reflux Timing is a Predictor of Successful Endoscopic Treatment of Vesicoureteral Reflux. ( 30385258 )
2018
43
Avoiding routine postoperative voiding cystourethrogram: Predicting radiologic success for endoscopically treated vesicoureteral reflux. ( 30407152 )
2018
44
The Modified Gil-Vernet Antireflux Surgery: A Successful Technique for High-Grade Vesicoureteral Reflux Correction in Children-Long-Term Follow-Up. ( 30420880 )
2018
45
Surgical outcome of patients with vesicoureteral reflux from a single institution in reference to the ESPU guidelines: a retrospective analysis. ( 30472078 )
2018
46
Expert opinion: art of endoscopic injection therapy for primary pediatric vesicoureteral reflux. ( 30509615 )
2018
47
Vesicoureteral Reflux and Renal Scarring in Infants After the First Febrile Urinary Tract Infection. ( 30514993 )
2018
48
Contrast-enhanced voiding urosonography with intravesical administration of ultrasound contrast agent for the diagnosis of pediatric vesicoureteral reflux. ( 30542403 )
2018
49
Diagnostic accuracy of contrast-enhanced voiding urosonogram using second-generation contrast with harmonic imaging (CEVUS-HI) study for assessment of vesicoureteral reflux in children: a meta-analysis. ( 30542962 )
2018
50
CEVL interactive: Art of endoscopic injection therapy for primary pediatric vesicoureteral reflux. ( 30551786 )
2018
Sources

Variations for Vesicoureteral Reflux 1

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ClinVar genetic disease variations for Vesicoureteral Reflux 1:

6 (show top 50) (show all 230)
# Gene Variation Type Significance SNP ID Assembly Location
1 ROBO2 NM_002942.4(ROBO2): c.2431C> T (p.Arg811Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs188582283 GRCh37 Chromosome 3, 77629200: 77629200
2 ROBO2 NM_002942.4(ROBO2): c.2431C> T (p.Arg811Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs188582283 GRCh38 Chromosome 3, 77580049: 77580049
3 C12orf57 NM_138425.3(C12orf57): c.53-2A> G single nucleotide variant Pathogenic rs1114167293 GRCh37 Chromosome 12, 7053637: 7053637
4 C12orf57 NM_138425.3(C12orf57): c.53-2A> G single nucleotide variant Pathogenic rs1114167293 GRCh38 Chromosome 12, 6944474: 6944474
5 ROBO2 NM_002942.4(ROBO2): c.94C> A (p.Arg32=) single nucleotide variant Benign rs6788280 GRCh37 Chromosome 3, 77147197: 77147197
6 ROBO2 NM_002942.4(ROBO2): c.94C> A (p.Arg32=) single nucleotide variant Benign rs6788280 GRCh38 Chromosome 3, 77098046: 77098046
7 ROBO2 NM_002942.4(ROBO2): c.1157C> T (p.Ala386Val) single nucleotide variant Uncertain significance rs199705591 GRCh38 Chromosome 3, 77550915: 77550915
8 ROBO2 NM_002942.4(ROBO2): c.1157C> T (p.Ala386Val) single nucleotide variant Uncertain significance rs199705591 GRCh37 Chromosome 3, 77600066: 77600066
9 ROBO2 NM_002942.4(ROBO2): c.1284G> T (p.Thr428=) single nucleotide variant Likely benign rs191732065 GRCh38 Chromosome 3, 77557996: 77557996
10 ROBO2 NM_002942.4(ROBO2): c.1284G> T (p.Thr428=) single nucleotide variant Likely benign rs191732065 GRCh37 Chromosome 3, 77607147: 77607147
11 ROBO2 NM_002942.4(ROBO2): c.1544A> T (p.Asn515Ile) single nucleotide variant Likely benign rs80051448 GRCh38 Chromosome 3, 77563191: 77563191
12 ROBO2 NM_002942.4(ROBO2): c.1544A> T (p.Asn515Ile) single nucleotide variant Likely benign rs80051448 GRCh37 Chromosome 3, 77612342: 77612342
13 ROBO2 NM_002942.4(ROBO2): c.1849+8C> G single nucleotide variant Likely benign rs144780438 GRCh38 Chromosome 3, 77565128: 77565128
14 ROBO2 NM_002942.4(ROBO2): c.1849+8C> G single nucleotide variant Likely benign rs144780438 GRCh37 Chromosome 3, 77614279: 77614279
15 ROBO2 NM_002942.4(ROBO2): c.2007A> C (p.Arg669=) single nucleotide variant Uncertain significance rs886058877 GRCh38 Chromosome 3, 77574534: 77574534
16 ROBO2 NM_002942.4(ROBO2): c.2007A> C (p.Arg669=) single nucleotide variant Uncertain significance rs886058877 GRCh37 Chromosome 3, 77623685: 77623685
17 ROBO2 NM_002942.4(ROBO2): c.2329-12C> A single nucleotide variant Likely benign rs115128094 GRCh38 Chromosome 3, 77579935: 77579935
18 ROBO2 NM_002942.4(ROBO2): c.2329-12C> A single nucleotide variant Likely benign rs115128094 GRCh37 Chromosome 3, 77629086: 77629086
19 ROBO2 NM_002942.4(ROBO2): c.2394C> T (p.Ser798=) single nucleotide variant Likely benign rs200412132 GRCh38 Chromosome 3, 77580012: 77580012
20 ROBO2 NM_002942.4(ROBO2): c.2394C> T (p.Ser798=) single nucleotide variant Likely benign rs200412132 GRCh37 Chromosome 3, 77629163: 77629163
21 ROBO2 NM_002942.4(ROBO2): c.3137-14G> A single nucleotide variant Likely benign rs188399309 GRCh38 Chromosome 3, 77607784: 77607784
22 ROBO2 NM_002942.4(ROBO2): c.3137-14G> A single nucleotide variant Likely benign rs188399309 GRCh37 Chromosome 3, 77656935: 77656935
23 ROBO2 NM_002942.4(ROBO2): c.3472C> T (p.Arg1158Trp) single nucleotide variant Uncertain significance rs747971442 GRCh38 Chromosome 3, 77617691: 77617691
24 ROBO2 NM_002942.4(ROBO2): c.3472C> T (p.Arg1158Trp) single nucleotide variant Uncertain significance rs747971442 GRCh37 Chromosome 3, 77666842: 77666842
25 ROBO2 NM_002942.4(ROBO2): c.3554+13delA deletion Benign rs78824327 GRCh38 Chromosome 3, 77617786: 77617786
26 ROBO2 NM_002942.4(ROBO2): c.3554+13delA deletion Benign rs78824327 GRCh37 Chromosome 3, 77666937: 77666937
27 ROBO2 NM_002942.4(ROBO2): c.3753T> C (p.Ser1251=) single nucleotide variant Likely benign rs201292837 GRCh38 Chromosome 3, 77622425: 77622425
28 ROBO2 NM_002942.4(ROBO2): c.3753T> C (p.Ser1251=) single nucleotide variant Likely benign rs201292837 GRCh37 Chromosome 3, 77671576: 77671576
29 ROBO2 NM_002942.4(ROBO2): c.3857G> T (p.Arg1286Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200131009 GRCh38 Chromosome 3, 77634966: 77634966
30 ROBO2 NM_002942.4(ROBO2): c.3857G> T (p.Arg1286Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200131009 GRCh37 Chromosome 3, 77684117: 77684117
31 ROBO2 NM_002942.4(ROBO2): c.3876G> A (p.Lys1292=) single nucleotide variant Likely benign rs200933374 GRCh38 Chromosome 3, 77634985: 77634985
32 ROBO2 NM_002942.4(ROBO2): c.3876G> A (p.Lys1292=) single nucleotide variant Likely benign rs200933374 GRCh37 Chromosome 3, 77684136: 77684136
33 ROBO2 NM_002942.4(ROBO2): c.*947C> T single nucleotide variant Likely benign rs550745516 GRCh37 Chromosome 3, 77696153: 77696153
34 ROBO2 NM_002942.4(ROBO2): c.4056C> T (p.Gly1352=) single nucleotide variant Likely benign rs184958084 GRCh38 Chromosome 3, 77644825: 77644825
35 ROBO2 NM_002942.4(ROBO2): c.4056C> T (p.Gly1352=) single nucleotide variant Likely benign rs184958084 GRCh37 Chromosome 3, 77693976: 77693976
36 ROBO2 NM_002942.4(ROBO2): c.4064G> A (p.Arg1355His) single nucleotide variant Uncertain significance rs771581041 GRCh38 Chromosome 3, 77644833: 77644833
37 ROBO2 NM_002942.4(ROBO2): c.4064G> A (p.Arg1355His) single nucleotide variant Uncertain significance rs771581041 GRCh37 Chromosome 3, 77693984: 77693984
38 ROBO2 NM_002942.4(ROBO2): c.*486A> T single nucleotide variant Likely benign rs181305605 GRCh37 Chromosome 3, 77695692: 77695692
39 ROBO2 NM_002942.4(ROBO2): c.*486A> T single nucleotide variant Likely benign rs181305605 GRCh38 Chromosome 3, 77646541: 77646541
40 ROBO2 NM_002942.4(ROBO2): c.*947C> T single nucleotide variant Likely benign rs550745516 GRCh38 Chromosome 3, 77647002: 77647002
41 ROBO2 NM_002942.4(ROBO2): c.*972T> C single nucleotide variant Uncertain significance rs886058879 GRCh37 Chromosome 3, 77696178: 77696178
42 ROBO2 NM_002942.4(ROBO2): c.*972T> C single nucleotide variant Uncertain significance rs886058879 GRCh38 Chromosome 3, 77647027: 77647027
43 ROBO2 NM_002942.4(ROBO2): c.*985C> A single nucleotide variant Likely benign rs114687906 GRCh37 Chromosome 3, 77696191: 77696191
44 ROBO2 NM_002942.4(ROBO2): c.*985C> A single nucleotide variant Likely benign rs114687906 GRCh38 Chromosome 3, 77647040: 77647040
45 ROBO2 NM_002942.4(ROBO2): c.*985C> T single nucleotide variant Uncertain significance rs114687906 GRCh38 Chromosome 3, 77647040: 77647040
46 ROBO2 NM_002942.4(ROBO2): c.*985C> T single nucleotide variant Uncertain significance rs114687906 GRCh37 Chromosome 3, 77696191: 77696191
47 ROBO2 NM_002942.4(ROBO2): c.*1061C> T single nucleotide variant Likely benign rs186113368 GRCh38 Chromosome 3, 77647116: 77647116
48 ROBO2 NM_002942.4(ROBO2): c.*1061C> T single nucleotide variant Likely benign rs186113368 GRCh37 Chromosome 3, 77696267: 77696267
49 ROBO2 NM_002942.4(ROBO2): c.*1290G> T single nucleotide variant Likely benign rs568949141 GRCh38 Chromosome 3, 77647345: 77647345
50 ROBO2 NM_002942.4(ROBO2): c.*1290G> T single nucleotide variant Likely benign rs568949141 GRCh37 Chromosome 3, 77696496: 77696496
Sources

Expression for Vesicoureteral Reflux 1

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Search GEO for disease gene expression data for Vesicoureteral Reflux 1.
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Pathways for Vesicoureteral Reflux 1

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Pathways related to Vesicoureteral Reflux 1 according to KEGG:

37
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

Pathways related to Vesicoureteral Reflux 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Renin secretion 37
10.94 AGT AGTR1 REN
2
Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics 61
Show member pathways
 10.83 AGT AGTR1 AGTR2 REN
Sources

GO Terms for Vesicoureteral Reflux 1

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Biological processes related to Vesicoureteral Reflux 1 according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell growth GO:0030308 9.81 AGT AGTR2 SOX17
2 regulation of blood pressure GO:0008217 9.71 AGT AGTR2 REN
3 positive regulation of extrinsic apoptotic signaling pathway GO:2001238 9.65 AGT AGTR2
4 positive regulation of blood vessel diameter GO:0097755 9.64 AGT AGTR2
5 regulation of vasoconstriction GO:0019229 9.64 AGT AGTR1
6 vasodilation GO:0042311 9.63 AGT AGTR2
7 nitric oxide mediated signal transduction GO:0007263 9.62 AGT AGTR2
8 cellular sodium ion homeostasis GO:0006883 9.62 AGT AGTR2
9 positive regulation of cellular protein metabolic process GO:0032270 9.61 AGT AGTR1
10 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.61 AGT AGTR1
11 cell growth involved in cardiac muscle cell development GO:0061049 9.6 AGT AGTR2
12 low-density lipoprotein particle remodeling GO:0034374 9.59 AGT AGTR1
13 positive regulation of renal sodium excretion GO:0035815 9.58 AGT AGTR2
14 regulation of blood vessel diameter GO:0097746 9.58 AGTR1 AGTR2
15 mesonephros development GO:0001823 9.57 PAX2 REN
16 angiotensin-activated signaling pathway GO:0038166 9.56 AGTR1 AGTR2
17 positive regulation of cholesterol esterification GO:0010873 9.55 AGT AGTR1
18 positive regulation of NAD(P)H oxidase activity GO:0033864 9.52 AGT AGTR1
19 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.51 AGT AGTR1
20 metanephric distal convoluted tubule development GO:0072221 9.49 PAX2 UMOD
21 negative regulation of neurotrophin TRK receptor signaling pathway GO:0051387 9.48 AGT AGTR2
22 regulation of renal sodium excretion GO:0035813 9.46 AGT AGTR1
23 positive regulation of metanephric glomerulus development GO:0072300 9.43 AGTR2 PAX2
24 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.4 AGT AGTR1
25 regulation of blood volume by renin-angiotensin GO:0002016 9.37 AGT REN
26 kidney development GO:0001822 9.35 AGT AGTR1 REN ROBO2 UPK3A
27 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.33 AGT AGTR2 PAX2
28 G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger GO:0007199 9.32 AGT AGTR2
29 regulation of metanephros size GO:0035566 9.26 AGTR2 PAX2
30 renin-angiotensin regulation of aldosterone production GO:0002018 8.92 AGT AGTR1 AGTR2 REN

Molecular functions related to Vesicoureteral Reflux 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 angiotensin type II receptor activity GO:0004945 8.62 AGTR1 AGTR2
Sources

Sources for Vesicoureteral Reflux 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
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31 HMDB
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33 ICD10
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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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