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: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0020538
Disease:
Hypertensive disease 		0.020 GeneticVariation BEFREE We investigated the associations between an important single nucleotide polymorphism (SNP) in UMOD, that is rs12917707-G>T, and estimated glomerular filtration rate (eGFR), BP and cardiac organ damage as determined by echocardiography in patients with arterial hypertension. 28598953 2017
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C2316810
Disease:
Chronic kidney disease stage 5 		0.020 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: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C2316810
Disease:
Chronic kidney disease stage 5 		0.020 GeneticVariation BEFREE The rs12917707 minor allele showed association with lower risk of ESRD (OR 0.89 [0.76-1.03], p = 0.04) consistent in effect size and direction with the previous report (Böger et al, PLoS Genet 2011). 22947327 2012
dbSNP: rs12922822
rs12922822
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0011849
Disease:
Diabetes Mellitus 		T 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs12922822
rs12922822
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs12922822
rs12922822
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0011847
Disease:
Diabetes 		T 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs13329952
rs13329952
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
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: rs12922822
rs12922822
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4280669
Disease:
Velopharyngeal dysfunction 		0.700 GeneticVariation GWASCAT GWAS reveals loci associated with velopharyngeal dysfunction. 29855589 2018
dbSNP: rs13333226
rs13333226
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0017654
Disease:
Glomerular Filtration Rate 		0.700 GeneticVariation GWASCAT A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes. 29703844 2018
dbSNP: rs13333226
rs13333226
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation GWASCAT A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes. 29703844 2018
dbSNP: rs143583842
rs143583842
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0740394
Disease:
Hyperuricemia 		0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
dbSNP: rs143583842
rs143583842
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
dbSNP: rs188709583
rs188709583
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0017654
Disease:
Glomerular Filtration Rate 		0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
dbSNP: rs188709583
rs188709583
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
dbSNP: rs201761378
rs201761378
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022661
Disease:
Kidney Failure, Chronic 		0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
dbSNP: rs13333226
rs13333226
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0428883
Disease:
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs1555487621
rs1555487621
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1859040
Disease:
Medullary Cystic Kidney Disease Type 2 		0.700 GeneticVariation UNIPROT A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease. 27729211 2017
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0011847
Disease:
Diabetes 		T 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		T 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0011849
Disease:
Diabetes Mellitus 		T 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs13329952
rs13329952
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022661
Disease:
Kidney Failure, Chronic 		T 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs13329952
rs13329952
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs13329952
rs13329952
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		T 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs1447458978
rs1447458978
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.700 GeneticVariation UNIPROT Pathogenic uromodulin mutations result in premature intracellular polymerization. 25436415 2015