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: rs886043751
rs886043751
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.710 GeneticVariation BEFREE The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect. 17245395 2007
dbSNP: rs886043751
rs886043751
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.710 GeneticVariation UNIPROT
dbSNP: rs886043751
rs886043751
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1859040
Disease:
Medullary Cystic Kidney Disease Type 2 		0.700 GeneticVariation UNIPROT
dbSNP: rs878855325
rs878855325
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1859040
Disease:
Medullary Cystic Kidney Disease Type 2 		AGGAGGCGG 0.700 CausalMutation CLINVAR
dbSNP: rs780462125
rs780462125
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.700 GeneticVariation UNIPROT
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: 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: rs4997081
rs4997081
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		C 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs4293393
rs4293393
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022661
Disease:
Kidney Failure, Chronic 		T 0.800 GeneticVariation GWASDB Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases. 20686651 2010
dbSNP: rs4293393
rs4293393
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022661
Disease:
Kidney Failure, Chronic 		T 0.800 GeneticVariation GWASCAT Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases. 20686651 2010
dbSNP: rs4293393
rs4293393
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0020538
Disease:
Hypertensive disease 		0.700 GeneticVariation GWASDB Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. 21082022 2010
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: 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: 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: rs398122388
rs398122388
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs28934584
rs28934584
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1859040
Disease:
Medullary Cystic Kidney Disease Type 2 		0.800 GeneticVariation UNIPROT Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. 14531790 2003
dbSNP: rs28934584
rs28934584
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1859040
Disease:
Medullary Cystic Kidney Disease Type 2 		0.800 GeneticVariation UNIPROT Pathogenic uromodulin mutations result in premature intracellular polymerization. 25436415 2015
dbSNP: rs28934584
rs28934584
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1859040
Disease:
Medullary Cystic Kidney Disease Type 2 		0.800 GeneticVariation UNIPROT Defective intracellular trafficking of uromodulin mutant isoforms. 17010121 2006
dbSNP: rs28934584
rs28934584
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1859040
Disease:
Medullary Cystic Kidney Disease Type 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28934584
rs28934584
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1859040
Disease:
Medullary Cystic Kidney Disease Type 2 		0.800 GeneticVariation UNIPROT Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. 12471200 2002