AVPR2, arginine vasopressin receptor 2, 554

N. diseases: 134; N. variants: 38
Disease: ADH-Resistant Diabetes Insipidus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3542500
Disease: ADH-Resistant Diabetes Insipidus
ADH-Resistant Diabetes Insipidus 		0.300 Biomarker disease CTD_human A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure. 19703807 2010
CUI: C3542500
Disease: ADH-Resistant Diabetes Insipidus
ADH-Resistant Diabetes Insipidus 		0.300 Biomarker disease CTD_human V2R mutations and nephrogenic diabetes insipidus. 20374732 2009
CUI: C3542500
Disease: ADH-Resistant Diabetes Insipidus
ADH-Resistant Diabetes Insipidus 		0.300 Biomarker disease CTD_human A selective EP4 PGE2 receptor agonist alleviates disease in a new mouse model of X-linked nephrogenic diabetes insipidus. 19729836 2009
CUI: C3542500
Disease: ADH-Resistant Diabetes Insipidus
ADH-Resistant Diabetes Insipidus 		0.300 Biomarker disease CTD_human Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo. 14998935 2004
CUI: C3542500
Disease: ADH-Resistant Diabetes Insipidus
ADH-Resistant Diabetes Insipidus 		0.300 Biomarker disease CTD_human Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus. 12414899 2002