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: 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: 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: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1561643
Disease:
Chronic Kidney Diseases 		0.730 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
dbSNP: rs13333226
rs13333226
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0011849
Disease:
Diabetes Mellitus 		0.710 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: C0011847
Disease:
Diabetes 		0.710 GeneticVariation GWASCAT A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes. 29703844 2018
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: 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
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: rs28934584
rs28934584
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1859040
Disease:
Medullary Cystic Kidney Disease Type 2 		0.800 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: C1561643
Disease:
Chronic Kidney Diseases 		0.730 GeneticVariation BEFREE The rs12917707 was not associated with CKD. 28954491 2017
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: 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