Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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