AVPR2, arginine vasopressin receptor 2, 554

N. diseases: 134; N. variants: 38
Disease: Nephronophthisis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.010 GeneticVariation disease BEFREE Genetic testing for the nephronophthisis came back negative but was positive for a missense mutation in the AVPR2 gene (p.Arg104Cys) associated with partial nephrogenic diabetes insipidus.He was started on daily desmopressin. 27350623 2017