Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3952
Gene Symbol: LEP
LEP
0.300 Biomarker phenotype CTD_human Oral administration of Nitraria retusa ethanolic extract enhances hepatic lipid metabolism in db/db mice model 'BKS.Cg-Dock7(m)+/+ Lepr(db/)J' through the modulation of lipogenesis-lipolysis balance. 25086370 2014
Entrez Id: 551
Gene Symbol: AVP
AVP
0.200 Biomarker phenotype BEFREE Central diabetes insipidus (CDI) is characterized by polyuria and polydipsia caused by impairment of arginine vasopressin (AVP) secretion. 31748430 2020
Entrez Id: 551
Gene Symbol: AVP
AVP
0.200 Biomarker phenotype BEFREE Alternatively, hypoarousal could be a side effect of diabetes insipidus - polydipsia and polyuria seen in Hom rats due to loss of AVP facilitation of water reabsorption in the kidney. 31160697 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
0.200 Biomarker phenotype BEFREE Absence of the anti-diuretic hormone, arginine vasopressin (AVP), facilitates copious free water urinary excretion (polyuria) in equal volumes to polydipsia to maintain plasma tonicity within normal physiological limits. 31284689 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
0.200 GeneticVariation phenotype BEFREE Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is characterized by severe polyuria and polydipsia and is caused by variations in the gene encoding the AVP prohormone. 29949799 2018
Entrez Id: 551
Gene Symbol: AVP
AVP
0.200 Biomarker phenotype BEFREE Diabetes insipidus is a disease characterized by polyuria and polydipsia due to inadequate release of arginine vasopressin from the posterior pituitary gland (neurohypophyseal diabetes insipidus) or due to arginine vasopressin insensitivity by the renal distal tubule, leading to a deficiency in tubular water reabsorption (nephrogenic diabetes insipidus). 28476225 2017
Entrez Id: 551
Gene Symbol: AVP
AVP
0.200 GeneticVariation phenotype BEFREE Neurohypophyseal diabetes insipidus is characterized by polyuria and polydipsia owing to partial or complete deficiency of the antidiuretic hormone, arginine vasopressin (AVP). 27156762 2016
Entrez Id: 551
Gene Symbol: AVP
AVP
0.200 Biomarker phenotype BEFREE Familial neurohypophyseal diabetes insipidus (FNDI) is a rare hereditary disorder with unknown prevalence characterized by arginine-vasopressin hormone (AVP) deficiency resulting in polyuria and polydipsia from early childhood. 27539621 2016
Entrez Id: 551
Gene Symbol: AVP
AVP
0.200 GeneticVariation phenotype BEFREE Familial neurohypophyseal diabetes insipidus (FNDI) is a genetic disorder presenting with polyuria and polydipsia and is caused by mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene. 27513365 2016
Entrez Id: 551
Gene Symbol: AVP
AVP
0.200 Biomarker phenotype BEFREE The mutations lead to aberrant preprohormone processing and progressive destruction of AVP-secreting cells, which gradually manifests a progressive polyuria and polydipsia during early childhood, and a disorder of water homeostasis. 23252994 2013
Entrez Id: 551
Gene Symbol: AVP
AVP
0.200 Biomarker phenotype BEFREE Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare autosomal dominant disorder characterized by polyuria and polydipsia due to deficiency of arginine vasopressin (AVP). 19169480 2008
Entrez Id: 551
Gene Symbol: AVP
AVP
0.200 Biomarker phenotype BEFREE Congenital nephrogenic diabetes insipidus (NDI) is a chronic disorder involving polyuria and polydipsia that results from unresponsiveness of the renal collecting ducts to the antidiuretic hormone vasopressin. 18653713 2008
Entrez Id: 551
Gene Symbol: AVP
AVP
0.200 GeneticVariation phenotype BEFREE The homozygous individuals reported subjective improvement in polyuria and polydipsia with the use of dDAVP (1-desamino-8-D-arginine-vasopressin). 15100362 2004
Entrez Id: 551
Gene Symbol: AVP
AVP
0.200 Biomarker phenotype HPO
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.160 Biomarker phenotype BEFREE PRSG administration completely suppressed Li-induced polydipsia and polyuria and significantly prevented Li-induced decreases in AQP2 protein abundance in renal cortex and medulla. 28233082 2017
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.160 AlteredExpression phenotype BEFREE Disrupted function or regulation of AQP2 or the AVPR2 results in nephrogenic diabetes insipidus (NDI), a common clinical condition of renal origin characterized by polydipsia and polyuria. 23360744 2013
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.160 GeneticVariation phenotype BEFREE Alterations in AQP2 function induce nephrogenic diabetes insipidus (NDI), a condition characterized by severe polyuria and polydipsia. 19458121 2009
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.160 GeneticVariation phenotype BEFREE Mutations in AQP2 cause autosomal nephrogenic diabetes insipidus (NDI), a disease that renders the kidney unresponsive to vasopressin, resulting in polyuria and polydipsia. 19701945 2009
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.160 GeneticVariation phenotype BEFREE The interference with normal trafficking of Aqp2 by this mutation resulted in a severe urine concentration defect. cph homozygotes demonstrated polydipsia and produced a copious amount of hypotonic urine. 16641094 2006
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.160 GeneticVariation phenotype BEFREE Affected individuals with profound polyuria and polydipsia were homozygous for an autosomal recessive missense V168M mutation in the AQP2 gene. 15100362 2004
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.160 Biomarker phenotype HPO
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
0.110 GeneticVariation phenotype BEFREE Sequencing of AVP and WFS1 genes was performed in nine children with CDI, aged between 9 and 68 months, and negative family history for polyuria and polydipsia. 25740874 2015
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
0.110 Biomarker phenotype BEFREE Disrupted function or regulation of AQP2 or the AVPR2 results in nephrogenic diabetes insipidus (NDI), a common clinical condition of renal origin characterized by polydipsia and polyuria. 23360744 2013
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1
0.110 Biomarker phenotype BEFREE ROMK-deficient mice that survived beyond weaning grew to adulthood; however, they had metabolic acidosis, elevated blood concentrations of Na(+) and Cl(-), reduced blood pressure, polydipsia, polyuria, and poor urinary concentrating ability. 12122007 2002
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
0.110 Biomarker phenotype HPO