Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs188709583
Entrez Id: 7369
Gene Symbol: UMOD
CUI: C4511620
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