UPK3A, uroplakin 3A, 7380

N. diseases: 25; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
0.310 GeneticVariation disease BEFREE De novo UPIIIA mutations recently were identified in 4 of 17 patients with severe bilateral renal adysplasia. 16731295 2006
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney
0.300 GermlineCausalMutation disease ORPHANET De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. 15888565 2005
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
0.250 AlteredExpression disease LHGDN Up-regulation of urinary UPIII mRNA levels in vesicoureteral reflux patients: potential application as a screening test for vesicoureteral reflux. 17880289 2007
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
0.250 AlteredExpression disease BEFREE Up-regulation of urinary UPIII mRNA levels in vesicoureteral reflux patients: potential application as a screening test for vesicoureteral reflux. 17880289 2007
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
0.250 Biomarker disease BEFREE Uroplakin IIIa (encoded by UPIIIA) is an integral membrane protein present in urothelial plaques, and the murine UPIIIa knockout is associated with urothelial anomalies and vesicoureteral reflux. 16731295 2006
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
0.250 Biomarker disease BEFREE Uroplakin III is not a major candidate gene for primary vesicoureteral reflux. 15523493 2005
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
0.250 GeneticVariation disease BEFREE No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux. 14713856 2004
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
0.250 Biomarker disease BEFREE Targeted disruption of angiotensin type II receptor and uroplakin III genes result in the phenotype of primary vesicoureteral reflux. 12640275 2003
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
0.250 Biomarker disease MGD Ablation of uroplakin III gene results in small urothelial plaques, urothelial leakage, and vesicoureteral reflux. 11085999 2000
CUI: C4551858
Disease: Vesicoureteral Reflux 1
Vesicoureteral Reflux 1
0.050 Biomarker disease BEFREE Common genetic variants in four genes (GREM1, EYA1, ROBO2 and UPK3A) show a trend towards association with the development of primary VUR (GREM1, EYA1, ROBO2) or duplex collecting system (EYA1 and UPK3A). 22558067 2012
CUI: C4551858
Disease: Vesicoureteral Reflux 1
Vesicoureteral Reflux 1
0.050 AlteredExpression disease BEFREE UPIII mRNA was found to be up-regulated to a greater extent in VUR than in control exfoliated urinary cells (mean +/- SE: 497.0 +/- 178.5 copies vs. 69.0 +/- 10.0 copies, respectively, P < 0.001). 17880289 2007
CUI: C4551858
Disease: Vesicoureteral Reflux 1
Vesicoureteral Reflux 1
0.050 GeneticVariation disease BEFREE We were unable to detect linkage to any of the genes and loci and could exclude the GDNF, RET, SLIT2, SPRY1, PAX2, AGTR2, UPK1A and UPK3A genes and the 1p13 and 20p13 loci from linkage to VUR. 17497182 2007
CUI: C4551858
Disease: Vesicoureteral Reflux 1
Vesicoureteral Reflux 1
0.050 Biomarker disease BEFREE Our results do not support a role for UPK3 in primary VUR. 15523493 2005
CUI: C4551858
Disease: Vesicoureteral Reflux 1
Vesicoureteral Reflux 1
0.050 GeneticVariation disease BEFREE Although mutations in regulatory elements affecting gene function cannot be excluded, the UPIII gene does not seem to have a major role in primary VUR in humans. 14713856 2004
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.040 AlteredExpression disease BEFREE Organoids from individual BC dogs were successfully generated, expressed urothelial cell markers (CK7, CK20, and UPK3A) and exhibited tumorigenesis in vivo. 31254429 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.040 Biomarker disease BEFREE We describe here the first subtype-specific murine models of bladder cancer and show that Upk3a-Cre<sup>ERT2</sup>; Trp53<sup>L/L</sup>; Pten<sup>L/L</sup>; Rosa26<sup>LSL-Luc</sup> (UPPL, luminal-like) and BBN (basal-like) tumors are more faithful to human bladder cancer than the widely used MB49 cells. 29784854 2018
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.040 Biomarker disease BEFREE To determine TERT promoter mutation status as well as the expression of PAX8, GATA3, p63, p40, p53 and uroplakin III in 17 patients with the upper urinary tract sarcomatoid urothelial carcinoma. 28052688 2017
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.040 AlteredExpression disease LHGDN Loss expression of uroplakin III is associated with clinicopathologic features of aggressive bladder cancer. 18313120 2008
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.040 AlteredExpression disease LHGDN Impaired p63 expression associates with poor prognosis and uroplakin III expression in invasive urothelial carcinoma of the bladder. 14654529 2003
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.040 Biomarker disease BEFREE This study investigated the expression of the four uroplakin genes, UPIa, UPIb, UPII and UPIII, in a wide range of normal human tissues to determine tissue specificity and in advanced transitional cell carcinoma (TCC) to examine gene expression in primary and metastatic disease. 12474225 2003
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.040 AlteredExpression disease BEFREE Impaired p63 expression associates with poor prognosis and uroplakin III expression in invasive urothelial carcinoma of the bladder. 14654529 2003
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.040 AlteredExpression disease BEFREE Expression of uroplakin Ib and uroplakin III genes in tissues and peripheral blood of patients with transitional cell carcinoma. 9818021 1998
CUI: C0282488
Disease: Interstitial Cystitis
Interstitial Cystitis
0.030 Biomarker disease BEFREE Treatment with low-energy shock wave alleviates pain in an animal model of uroplakin 3A-induced autoimmune interstitial cystitis/painful bladder syndrome. 31501798 2019
CUI: C0600040
Disease: Chronic interstitial cystitis
Chronic interstitial cystitis
0.030 Biomarker disease BEFREE Treatment with low-energy shock wave alleviates pain in an animal model of uroplakin 3A-induced autoimmune interstitial cystitis/painful bladder syndrome. 31501798 2019