Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Nephrogenic Diabetes Insipidus
CUI: C0677501
Disease: Congenital Nephrogenic Diabetes Insipidus
0.010 GeneticVariation BEFREE Partial CNDI in the Swedish family is caused by an AQP2 variation that seems to disable the encoded AQP2-R254W protein to reach the subapical vesicle population as well as impairing its phosphorylation at S256. 26714855 2015