UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs188709583
rs188709583
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4511620
Disease:
Autosomal dominant tubulointerstitial kidney disease
0.010 GeneticVariation BEFREE A novel heterozygous mutation (c.1648G > A,p.V550I) in exon 8 of UMOD gene was found in in a Chinese child case with ADTKD-UMOD, which extends our understanding of UMOD gene mutation spectrum and phenotype of ADTKD-UMOD in children. 31068150 2019
dbSNP: rs28934583
rs28934583
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0740394
Disease:
Hyperuricemia
0.010 GeneticVariation BEFREE We describe here a novel heterozygous mutation of <i>UMOD</i> (c.249C>G; p.Cys83Trp) in an affected 9-year-old boy with progressive renal impairment and hyperuricemia. 29424336 2019
dbSNP: rs768597701
rs768597701
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4511620
Disease:
Autosomal dominant tubulointerstitial kidney disease
0.010 GeneticVariation BEFREE Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease. 29513881 2018
dbSNP: rs121917769
rs121917769
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4511620
Disease:
Autosomal dominant tubulointerstitial kidney disease
0.010 GeneticVariation BEFREE ADTKD-<i>UMOD</i>, which is associated with retention of mutant uromodulin in the endoplasmic reticulum (ER) of renal thick ascending limb cells, is characterized by hyperuricemia, interstitial fibrosis, inflammation and renal failure, and we used targeted homologous recombination to generate a knock-in mouse model with an ADTKD-causing missense cysteine to arginine uromodulin mutation (C125R). 28325753 2017
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The rs12917707 polymorphism at the UMOD locus and glomerular filtration rate in individuals with type 2 diabetes: evidence of heterogeneity across two different European populations. 27448670 2017
dbSNP: rs1389335358
rs1389335358
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE There were 4 NSV of GRK4 (R65L, A116T, A142V, V486A): at least one was found in all 9 patients; 3 were previously described and associated with hypertension. 28052878 2017
dbSNP: rs183962941
rs183962941
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.010 GeneticVariation BEFREE One SNP (rs183962941), located in a non-coding region of UMOD, was nominally associated with ESRD (p = 0.008). 28609449 2017
dbSNP: rs183962941
rs183962941
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C2316810
Disease:
Chronic kidney disease stage 5
0.010 GeneticVariation BEFREE One SNP (rs183962941), located in a non-coding region of UMOD, was nominally associated with ESRD (p = 0.008). 28609449 2017
dbSNP: rs199633513
rs199633513
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE There were 3 NSV of SCNN1B (R206Q, G442V, and R563Q); 2 previously described and 1 associated with hypertension. 28052878 2017
dbSNP: rs4293393
rs4293393
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0392525
Disease:
Nephrolithiasis
0.010 GeneticVariation BEFREE We selected single-nucleotide polymorphism (SNPs) including rs12654812 and rs11746443 from 5q32.3; rs12669187 and rs1000597 from 7q14.3; rs7981733, rs4142110 and rs17646069 from 13q14.1 and rs4293393 from 16p12.3 which were previously reported to be associated with nephrolithiasis. 28361944 2017
dbSNP: rs4293393
rs4293393
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022658
Disease:
Kidney Diseases
0.010 GeneticVariation BEFREE A total of 646 individuals, 208 with T2DM without evidence of kidney disease (DM), 221 with DN and 217 healthy controls (HC) were genotyped for UMOD variant rs4293393T>C by restriction fragment length polymorphism. 29578190 2017
dbSNP: rs4293393
rs4293393
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE UMOD rs4293393 T>C variation might have a bearing on susceptibility to nephropathy in north Indian individuals with type 2 diabetes. 29578190 2017
dbSNP: rs4293393
rs4293393
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022658
Disease:
Kidney Diseases
0.010 GeneticVariation BEFREE UMOD rs4293393 T>C variation might have a bearing on susceptibility to nephropathy in north Indian individuals with type 2 diabetes. 29578190 2017
dbSNP: rs4293393
rs4293393
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0011881
Disease:
Diabetic Nephropathy
0.010 GeneticVariation BEFREE The frequency of UMOD rs4293393 variant with C allele was significantly higher in individuals with DN. 29578190 2017
dbSNP: rs4293393
rs4293393
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022650
Disease:
Kidney Calculi
0.010 GeneticVariation BEFREE We selected single-nucleotide polymorphism (SNPs) including rs12654812 and rs11746443 from 5q32.3; rs12669187 and rs1000597 from 7q14.3; rs7981733, rs4142110 and rs17646069 from 13q14.1 and rs4293393 from 16p12.3 which were previously reported to be associated with nephrolithiasis. 28361944 2017
dbSNP: rs4293393
rs4293393
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0011881
Disease:
Diabetic Nephropathy
0.010 GeneticVariation BEFREE A total of 646 individuals, 208 with T2DM without evidence of kidney disease (DM), 221 with DN and 217 healthy controls (HC) were genotyped for UMOD variant rs4293393T>C by restriction fragment length polymorphism. 29578190 2017
dbSNP: rs759481702
rs759481702
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE There were 4 NSV of GRK4 (R65L, A116T, A142V, V486A): at least one was found in all 9 patients; 3 were previously described and associated with hypertension. 28052878 2017
dbSNP: rs13333226
rs13333226
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C2316810
Disease:
Chronic kidney disease stage 5
0.010 GeneticVariation BEFREE A common variation rs13333226 in the promoter region of UMOD gene was independently associated with ESRD in Han Chinese. 27938332 2016
dbSNP: rs13333226
rs13333226
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.010 GeneticVariation BEFREE A common variation rs13333226 in the promoter region of UMOD gene was independently associated with ESRD in Han Chinese. 27938332 2016
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022658
Disease:
Kidney Diseases
0.010 GeneticVariation BEFREE The common rs12917707 polymorphism previously linked to renal function and kidney disease was not associated with impaired filtration rate in our cohort. 26040415 2015
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0017661
Disease:
IGA Glomerulonephritis
0.010 GeneticVariation BEFREE We tested a large cohort of Caucasian patients for association of rs12917707 with IgA nephropathy showing a benign, stable course and with IgA nephropathy that progressed toward end stage renal failure. 25163389 2014
dbSNP: rs13333226
rs13333226
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022658
Disease:
Kidney Diseases
0.010 GeneticVariation BEFREE The G allele of rs13333226 was associated with a decreased risk of nephropathy [odds ratio (OR) 0.80, 95% confidence interval (CI) 0.69-0.91, P = 0.001] after correction for confounding factors like age, sex, body mass index (BMI), blood pressure, kidney function, smoking and duration of diabetes. 21738052 2011
dbSNP: rs4293393
rs4293393
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1561643
Disease:
Chronic Kidney Diseases
0.010 GeneticVariation BEFREE We observed an association between CKD and a variant with 80% population frequency, rs4293393-T, positioned next to the UMOD gene (GeneID: 7369) on chromosome 16p12 (OR = 1.25, P = 4.1x10(-10)). 20686651 2010
dbSNP: rs121917772
rs121917772
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4020705
Disease:
Glomerulocystic kidney disease
0.010 GeneticVariation BEFREE The Cys300Gly mutation was found in the family presenting with a GCKD phenotype. 15983957 2005
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0020538
Disease:
Hypertensive disease
0.020 GeneticVariation BEFREE The genetic rs12917707-G>T variant in uromodulin (UMOD) has been associated with renal function, chronic kidney disease and hypertension with the minor T-allele showing a protective effect. 28418009 2018