UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Disease: Storage disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267971
Disease: Storage disease
Storage disease 		0.010 GeneticVariation group BEFREE Mutations in the uromodulin gene (<i>UMOD</i>) resulting in malfunctioning of UMOD are known to be the cause of ADTKD-UMOD, which is assumed to be an endoplasmatic reticulum (ER) storage disease. 30976393 2019