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	vesicoureteral reflux

Disease ID	462
Disease	vesicoureteral reflux
Definition	Retrograde flow of urine from the URINARY BLADDER into the URETER. This is often due to incompetence of the vesicoureteral valve leading to ascending bacterial infection into the KIDNEY.
Synonym	reflux vesicoureteral reflux vesicoureteric reflux, vesico-ureteral reflux, vesicoureteral ureteral reflux ureteric reflux vesico ureteral reflux vesico-ureteral reflux vesico-ureteral reflux [disease/finding] vesico-ureteric reflux vesico-ureteric reflux (finding) vesicoureteral reflux 1 vesicoureteric reflux vesicoureteric reflux (disorder) vur vur - vesicoureteral reflux vur - vesicoureteric reflux vur1
OMIM	OMIM:193000
DOID	DOID:9620
UMLS	C0042580
MeSH	D014718
SNOMED-CT	SNOMEDCT_US_2016_09_01:197811007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:25) C0020295 \| hydronephrosis \| 5 C0034186 \| pyelonephritis \| 3 C0005697 \| neurogenic bladder \| 3 C0041956 \| ureteral obstruction \| 2 C0022658 \| renal disease \| 2 C0022661 \| end-stage renal disease \| 2 C0020538 \| hypertension \| 2 C0345335 \| multicystic dysplastic kidney \| 1 C0010692 \| cystitis \| 1 C0178664 \| glomerulosclerosis \| 1 C0033687 \| proteinuria \| 1 C0156273 \| bladder diverticula \| 1 C0027719 \| nephrosclerosis \| 1 C0151740 \| intracranial hypertension \| 1 C0156273 \| bladder diverticulum \| 1 C0041952 \| ureteral stone \| 1 C0041960 \| ureterocele \| 1 C0009806 \| constipation \| 1 C0022658 \| nephropathy \| 1 C0005411 \| biliary atresia \| 1 C0034359 \| pyuria \| 1 C0022661 \| chronic kidney disease \| 1 C0282488 \| interstitial cystitis \| 1 C0520575 \| acute pyelonephritis \| 1 C0033845 \| idiopathic intracranial hypertension \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) 1636 \| ACE \| CIPHER 185 \| AGTR1 \| CIPHER 186 \| AGTR2 \| CIPHER 3816 \| KLK1 \| CIPHER 7040 \| TGFB1 \| CIPHER 11045 \| UPK1A \| CIPHER 6928 \| HNF1B \| CIPHER 5076 \| PAX2 \| CIPHER 5979 \| RET \| CIPHER 6092 \| ROBO2 \| CIPHER 9353 \| SLIT2 \| CIPHER 7380 \| UPK3A \| CIPHER 54113 \| VUR \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:83) 176 \| ACAN \| 1.09 \| DISEASES 55811 \| ADCY10 \| 3.107 \| DISEASES 183 \| AGT \| 1.892 \| DISEASES 186 \| AGTR2 \| 3.116 \| DISEASES 8905 \| AP1S2 \| 1.454 \| DISEASES 60489 \| APOBEC3G \| 1.379 \| DISEASES 170302 \| ARX \| 1.465 \| DISEASES 54829 \| ASPN \| 1.268 \| DISEASES 567 \| B2M \| 2.837 \| DISEASES 586 \| BCAT1 \| 1.803 \| DISEASES 80114 \| BICC1 \| 2.098 \| DISEASES 127795 \| C1orf87 \| 3.125 \| DISEASES 22900 \| CARD8 \| 1.615 \| DISEASES 911 \| CD1C \| 1.497 \| DISEASES 988 \| CDC5L \| 2.095 \| DISEASES 9557 \| CHD1L \| 1.374 \| DISEASES 55636 \| CHD7 \| 2.332 \| DISEASES 79827 \| CLMP \| 1.896 \| DISEASES 64084 \| CLSTN2 \| 1.829 \| DISEASES 1369 \| CPN1 \| 1.142 \| DISEASES 1471 \| CST3 \| 2.356 \| DISEASES 10106 \| CTDSP2 \| 2.222 \| DISEASES 9547 \| CXCL14 \| 1.052 \| DISEASES 25778 \| DSTYK \| 3.441 \| DISEASES 2018 \| EMX2 \| 2.919 \| DISEASES 2138 \| EYA1 \| 2.621 \| DISEASES 2152 \| F3 \| 2.346 \| DISEASES 389549 \| FEZF1 \| 1.743 \| DISEASES 2253 \| FGF8 \| 1.869 \| DISEASES 2263 \| FGFR2 \| 2.347 \| DISEASES 2317 \| FLNB \| 1.353 \| DISEASES 2303 \| FOXC2 \| 1.081 \| DISEASES 2300 \| FOXL1 \| 2.027 \| DISEASES 2625 \| GATA3 \| 1.483 \| DISEASES 2668 \| GDNF \| 1.943 \| DISEASES 2674 \| GFRA1 \| 1.332 \| DISEASES 2737 \| GLI3 \| 1.421 \| DISEASES 11146 \| GLMN \| 2.197 \| DISEASES 2739 \| GLO1 \| 1.103 \| DISEASES 2980 \| GUCA2A \| 1.782 \| DISEASES 26762 \| HAVCR1 \| 1.654 \| DISEASES 3055 \| HCK \| 1.345 \| DISEASES 60495 \| HPSE2 \| 2.161 \| DISEASES 3400 \| ID4 \| 1.217 \| DISEASES 29949 \| IL19 \| 1.403 \| DISEASES 9807 \| IP6K1 \| 2.474 \| DISEASES 51447 \| IP6K2 \| 2.49 \| DISEASES 102723508 \| KANTR \| 2.023 \| DISEASES 84148 \| KAT8 \| 1.508 \| DISEASES 9851 \| KIAA0753 \| 1.68 \| DISEASES 54900 \| LAX1 \| 2.415 \| DISEASES 9860 \| LRIG2 \| 3.155 \| DISEASES 90550 \| MCU \| 5.699 \| DISEASES 10724 \| MGEA5 \| 3.486 \| DISEASES 399687 \| MYO18A \| 1.286 \| DISEASES 64324 \| NSD1 \| 1.125 \| DISEASES 5021 \| OXTR \| 1.02 \| DISEASES 5064 \| PALM \| 3.384 \| DISEASES 5076 \| PAX2 \| 4.624 \| DISEASES 79156 \| PLEKHF1 \| 3.292 \| DISEASES 64901 \| RANBP17 \| 2.803 \| DISEASES 2889 \| RAPGEF1 \| 1.208 \| DISEASES 5979 \| RET \| 2.042 \| DISEASES 6092 \| ROBO2 \| 5.216 \| DISEASES 6139 \| RPL17 \| 3.405 \| DISEASES 6297 \| SALL2 \| 2.142 \| DISEASES 8910 \| SGCE \| 1.185 \| DISEASES 25970 \| SH2B1 \| 1.426 \| DISEASES 9353 \| SLIT2 \| 3.252 \| DISEASES 6586 \| SLIT3 \| 3.119 \| DISEASES 692233 \| SNORD117 \| 2.894 \| DISEASES 6082 \| SNORD20 \| 2.574 \| DISEASES 26774 \| SNORD80 \| 2.67 \| DISEASES 10252 \| SPRY1 \| 2.307 \| DISEASES 9220 \| TIAF1 \| 1.525 \| DISEASES 10333 \| TLR6 \| 1.096 \| DISEASES 7124 \| TNF \| 1.004 \| DISEASES 7148 \| TNXB \| 3.091 \| DISEASES 11277 \| TREX1 \| 1.161 \| DISEASES 92181 \| UBTD2 \| 3.491 \| DISEASES 7422 \| VEGFA \| 1.214 \| DISEASES 7481 \| WNT11 \| 1.532 \| DISEASES 57623 \| ZFAT \| 2.588 \| DISEASES
Locus	(Waiting for update.)

Disease ID	462
Disease	vesicoureteral reflux
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0000924 \| Abnormality of the skeletal system HP:0000076 \| Vesicoureteric reflux
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:37) HP:0000010 \| Frequent urinary tract infections \| 26 HP:0100699 \| Scarring \| 9 HP:0000126 \| Hydronephrosis \| 5 HP:0001382 \| Hyperextensible joints \| 4 HP:0000011 \| Neurogenic bladder \| 3 HP:0003774 \| End-stage renal failure \| 3 HP:0010481 \| Urethral valve \| 3 HP:0012330 \| Pyelonephritis \| 3 HP:0010957 \| Congenital posterior urethral valve \| 3 HP:0000015 \| Bladder diverticula \| 2 HP:0000805 \| Enuresis \| 2 HP:0010677 \| Enuresis nocturna \| 2 HP:0000822 \| Hypertension \| 2 HP:0006000 \| Ureteral obstruction \| 2 HP:0000073 \| Ureteral duplication \| 2 HP:0000086 \| Ectopic kidney \| 2 HP:0000003 \| Multicystic kidney dysplasia \| 1 HP:0000093 \| Proteinuria \| 1 HP:0008705 \| Ureteral triplication \| 1 HP:0012085 \| High urine neutrophil count \| 1 HP:0010867 \| Dyssynergia \| 1 HP:0000096 \| Glomerulosclerosis \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0030037 \| Bifid ureter \| 1 HP:0000072 \| Megaureter \| 1 HP:0002150 \| Hypercalcinuria \| 1 HP:0012585 \| Renal atrophy \| 1 HP:0002516 \| Intracranial pressure elevation \| 1 HP:0000070 \| Ureterocele \| 1 HP:0012622 \| Chronic kidney disease \| 1 HP:0009741 \| Thickening of kidney artiries \| 1 HP:0005912 \| Biliary duct atresia \| 1 HP:0002019 \| Dyschezia \| 1 HP:0000112 \| Nephropathy \| 1 HP:0000081 \| Double urinary collecting systems on intravenous pyelography \| 1 HP:0000089 \| Small kidneys \| 1 HP:0004736 \| Crossed fused renal ectopia \| 1

Disease ID	462
Disease	vesicoureteral reflux
Manually Symptom	UMLS \| Name(Total Manually Symptoms:19) C2632116 \| stenosis C1963154 \| renal failure C1963087 \| constipation C1567741 \| hereditary nephritis C0403477 \| medullary nephrocalcinosis C0403447 \| chronic kidney disease C0403389 \| chronic obstructive pyelonephritis C0282488 \| interstitial cystitis C0262655 \| recurrent urinary tract infection C0232495 \| lower abdominal pain C0151465 \| renal abscess C0085697 \| chronic pyelonephritis C0042029 \| urinary tract infections C0042029 \| urinary tract infection C0034186 \| pyelonephritis C0022661 \| end-stage renal disease C0022661 \| end stage renal disease C0022658 \| renal disease C0000737 \| abdominal pain
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:9) C0042029 \| urinary tract infection \| 17 C0042029 \| urinary tract infections \| 4 C0262655 \| recurrent urinary tract infection \| 3 C0034186 \| pyelonephritis \| 2 C0022658 \| renal disease \| 1 C0282488 \| interstitial cystitis \| 1 C0022661 \| end-stage renal disease \| 1 C0022661 \| chronic kidney disease \| 1 C0035078 \| renal failure \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs3804099	23484049	7097	TLR2	umls:C0042580	BeFree	Further genotype pattern frequency analysis in TLR-2 SNPs (rs3804099 and rs3804100) showed significantly reduced occurrence of the rare allele homozygote (CC+CC) in the no-VUR subgroup of APN and ALN cases.	0.000271442	2013	TLR2	4	153703504	T	C
rs3804100	23484049	7097	TLR2	umls:C0042580	BeFree	Further genotype pattern frequency analysis in TLR-2 SNPs (rs3804099 and rs3804100) showed significantly reduced occurrence of the rare allele homozygote (CC+CC) in the no-VUR subgroup of APN and ALN cases.	0.000271442	2013	TLR2	4	153704257	T	C
rs4073	21042230	3576	CXCL8	umls:C0042580	BeFree	Following the elimination of vesicoureteral reflux, which is a significant risk factor for severe parenchymal infection, a single SNP in IL-8 (rs4073) was found to be associated with clinically severe ALN.	0.000814326	2011	CXCL8	4	73740307	A	T
rs5443	15337465	2784	GNB3	umls:C0042580	BeFree	This result suggests that the C825T polymorphism of the GNB3 gene might be associated with the development of VUR.	0.005634266	2004	GNB3;CDCA3	12	6845711	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000076	Vesicoureteral reflux	MP:0001948	vesicoureteral reflux	the retrograde flow of urine from the bladder into the ureters and kidneys
HP:0000924	Abnormality of the skeletal system	MP:0013283	failure of ventral body wall closure	failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h

Mapped by homologous gene(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000076	Vesicoureteral reflux	MP:0014155	absent olfactory epithelium	absence of the epithelial cells that line the interior of the nose
HP:0000924	Abnormality of the skeletal system	MP:0014071	increased cardiac muscle glycogen level	greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle

Disease ID	462
Disease	vesicoureteral reflux
Case	(Waiting for update.)

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