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 Nephrogenic diabetes insipidus (NDI) is a rare, mostly X-linked recessive disorder characterized by renal tubular resistance to the antidiuretic effect of arginine vasopressin. 10694923 1998
Entrez Id: 360
Gene Symbol: AQP3
AQP3
0.210 Biomarker disease BEFREE Nephrogenic diabetes insipidus in mice lacking aquaporin-3 water channels. 10737773 2000
Entrez Id: 551
Gene Symbol: AVP
AVP
0.100 Biomarker disease BEFREE Nephrogenic diabetes insipidus (NDI) is characterized by resistance of the kidneys to the action of arginine vasopressin (AVP); X-linked recessive NDI is caused by an inactivating mutation of the vasopressin type-2 (V2) receptor. 11232028 2001
Entrez Id: 551
Gene Symbol: AVP
AVP
0.100 GeneticVariation disease BEFREE Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone arginine vasopressin (AVP). 16580609 2006
Entrez Id: 551
Gene Symbol: AVP
AVP
0.100 Biomarker disease BEFREE Nephrogenic diabetes insipidus (NDI) is an inherited disorder characterized by renal resistance to the antidiuretic effect of arginine vasopressin (AVP), resulting in polyuria, polydipsia, and hypoosmolar urine. 17020465 2006
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
0.030 GeneticVariation disease BEFREE Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2. 18553546 2008
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.900 GeneticVariation disease BEFREE Nephrogenic diabetes insipidus is caused by mutations of the arginine vasopressin receptor (AVPR2) or aquaporin-II (AQP2) genes. 19294427 2009
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
0.900 GeneticVariation disease BEFREE Nephrogenic diabetes insipidus due to a novel AVPR2 mutation. 19449677 2009
Entrez Id: 551
Gene Symbol: AVP
AVP
0.100 Biomarker disease BEFREE Nephrogenic diabetes insipidus is characterized by a lack of response in the distal nephron to the antidiuretic hormone arginine vasopressin. 19488606 2009
Entrez Id: 551
Gene Symbol: AVP
AVP
0.100 GeneticVariation disease BEFREE Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). 20374732 2009
Entrez Id: 551
Gene Symbol: AVP
AVP
0.100 GeneticVariation disease BEFREE Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). 27156763 2016
Entrez Id: 551
Gene Symbol: AVP
AVP
0.100 Biomarker disease BEFREE Nephrogenic diabetes insipidus is a condition characterized by polyuria with dilute urine due to the inability of the principal cells of the renal collecting ducts to respond to antidiuretic hormone and concentrate urine. 27780577 2017
Entrez Id: 551
Gene Symbol: AVP
AVP
0.100 GeneticVariation disease BEFREE Nephrogenic diabetes insipidus (NDI) is a rare X-linked disorder associated with renal tubule resistance to arginine vasopressin (AVP). 7564126 1995
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
0.900 GeneticVariation disease BEFREE Nephrogenic diabetes insipidus (NDI) usually shows an X-linked recessive mode of inheritance caused by mutations in the vasopressin type 2 receptor gene (AVPR2). 7607658 1995
Entrez Id: 551
Gene Symbol: AVP
AVP
0.100 Biomarker disease BEFREE Nephrogenic diabetes insipidus is a rare genetic disorder characterized by insensitivity of the distal nephron to the antidiuretic effect of arginine vasopressin. 8823534 1996