Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
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