Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2 		0.900 Biomarker disease HPO
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2 		0.900 GeneticVariation disease CLINVAR
Entrez Id: 359
Gene Symbol: AQP2
AQP2 		0.900 Biomarker disease HPO
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2 		0.900 CausalMutation disease CLINVAR
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2 		0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 359
Gene Symbol: AQP2
AQP2 		0.900 GeneticVariation disease CLINVAR
Entrez Id: 359
Gene Symbol: AQP2
AQP2 		0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 359
Gene Symbol: AQP2
AQP2 		0.900 CausalMutation disease CLINVAR
Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B 		0.100 Biomarker disease HPO
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.100 Biomarker disease HPO
Entrez Id: 551
Gene Symbol: AVP
AVP 		0.100 Biomarker disease BEFREE X-linked nephrogenic diabetes insipidus (NDI) is a rare disorder in which the kidney is insensitive to the antidiuretic hormone, vasopressin. 1303257 1992
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2 		0.900 GeneticVariation disease BEFREE We show here that the structural AVPR2 gene is localized between DXS52 and G6PD, which is within the genetic map location of DIR. 1303271 1992
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		0.010 Biomarker disease BEFREE We show here that the structural AVPR2 gene is localized between DXS52 and G6PD, which is within the genetic map location of DIR. 1303271 1992
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2 		0.900 GeneticVariation disease BEFREE Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region. 1324225 1992
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.010 GeneticVariation disease BEFREE In this paper genetic evidence that the DIR locus is localized distal to the DXS305 locus and that the functional gene for the V2 receptor is localized between the markers DXS269 and F8 is presented. 1324225 1992
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2 		0.900 Biomarker disease BEFREE Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus. 1534150 1992
Entrez Id: 796
Gene Symbol: CALCA
CALCA 		0.010 Biomarker disease BEFREE The V2-specific agonist [Mpa1,Val4,Sar7]AVP was as potent as AVP in inducing cAMP production by NDI-DNA-carrying cells, whereas no response was shown to other hormones such as calcitonin, oxytocin (less than 10(-8) M), isoproterenol, or an oxytocin-specific agonist. 2168411 1990
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		0.020 Biomarker disease BEFREE Absent factor VIII response to synthetic vasopressin analogue (DDAVP) in nephrogenic diabetes insipidus. 2860491 1985
Entrez Id: 551
Gene Symbol: AVP
AVP 		0.100 Biomarker disease BEFREE Normal response of factor VIII and von Willebrand factor to 1-deamino-8D-arginine vasopressin in nephrogenic diabetes insipidus. 3132483 1988
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		0.020 Biomarker disease BEFREE Normal response of factor VIII and von Willebrand factor to 1-deamino-8D-arginine vasopressin in nephrogenic diabetes insipidus. 3132483 1988
Entrez Id: 7450
Gene Symbol: VWF
VWF 		0.020 Biomarker disease BEFREE Normal response of factor VIII and von Willebrand factor to 1-deamino-8D-arginine vasopressin in nephrogenic diabetes insipidus. 3132483 1988
Entrez Id: 359
Gene Symbol: AQP2
AQP2 		0.900 Biomarker disease MGD Congenital progressive hydronephrosis in mice: a new recessive mutation. 3184310 1988
Entrez Id: 6768
Gene Symbol: ST14
ST14 		0.010 GeneticVariation disease BEFREE In five families with X-linked nephrogenic diabetes insipidus (NDI), linkage studies with the DNA marker DXS52, defined by probe St14, have shown no recombination with a maximum combined lod score of 6.40. 3226453 1988
Entrez Id: 359
Gene Symbol: AQP2
AQP2 		0.900 GeneticVariation disease BEFREE Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. 7524315 1994
Entrez Id: 359
Gene Symbol: AQP2
AQP2 		0.900 GeneticVariation disease BEFREE Recently, we reported mutations in the gene encoding the water channel of the collecting duct, aquaporin-2 (AQP-2) causing an autosomal recessive form of nephrogenic diabetes insipidus (NDI). 7537761 1995