ADRA1A, adrenoceptor alpha 1A, 148

N. diseases: 294; N. variants: 30
Disease: Nephrogenic Syndrome of Inappropriate Antidiuresis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374029186
rs374029186
Entrez Id: 148
Gene Symbol: ADRA1A
ADRA1A
CUI: C1845202
Disease:
Nephrogenic Syndrome of Inappropriate Antidiuresis 		0.010 GeneticVariation BEFREE To gain a deeper insight into the functional properties of the V2R active mutants and how they might translate into the pathological outcome of NSIAD, in this study, we have expressed the wild-type V2R and three constitutively active V2R mutants associated with NSIAD (R137L, R137C, and the F229V) in MCD4 cells, a cell line derived from renal mouse collecting duct, stably expressing the vasopressin-sensitive water channel aquaporin-2 (AQP2). 31486901 2019