rs104894752, AVPR2

N. diseases: 2
Disease: Nephrogenic Diabetes Insipidus, Type I ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Novel mutations underlying nephrogenic diabetes insipidus in Arab families. 16845277 2006
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients. 11916004 2002
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT The property of a novel v2 receptor mutant in a patient with nephrogenic diabetes insipidus. 11232028 2001
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families. 10770218 2000
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus. 11026555 2000
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides. 9452109 1998
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms. 9711877 1998
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus. Mutations in brief no. 165. Online. 10694923 1998
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. 7560098 1995
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system. 7984150 1994
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. 8078903 1994
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. 8037205 1994
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus. 8045948 1994
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus. 7987330 1994
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus. 7833930 1994
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Brief report: a molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus. 8479490 1993
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase. 8514744 1993
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus. 8267567 1993
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. 1303257 1992
Nephrogenic Diabetes Insipidus, Type I
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
0.700 GeneticVariation UNIPROT Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. 1303271 1992