AQP1, aquaporin 1 (Colton blood group), 358

N. diseases: 268; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 Biomarker group BEFREE AQP1 may be a potential target for pulmonary hypertension treatment. 30580569 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 AlteredExpression group BEFREE Immunofluorescence was performed in different eye structures to analyze the effects of hypertension in the expression of AQP1, AQP4, and the Na⁺/K⁺ ATPase α1 and α2 subunits. 30428541 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 Biomarker group BEFREE Upregulated aquaporin-1 expression and function may be a response to hypertension that critically determines conduit artery vessel wall viability and long-term susceptibility to atherosclerosis.<b>NEW & NOTEWORTHY</b> The aortic endothelia of two high-renin hypertensive rat models express greater than two times the aquaporin-1 and, at low pressures, have greater than two times the endothelial hydraulic conductivity of normotensive rats. 28733452 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 AlteredExpression group BEFREE Obese Zucker rats display intracranial hypertension and increased AQP1 expression in CP compared to lean controls. 28344346 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 Biomarker group BEFREE Aquaporin 1 controls the functional phenotype of pulmonary smooth muscle cells in hypoxia-induced pulmonary hypertension. 28409279 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 Biomarker group CTD_human A custom rat and baboon hypertension gene array to compare experimental models. 22228705 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 Biomarker group RGD The present study has assessed the expression of AQP1 and AQP4 in the brain of SHR in pre-hypertensive (2 months of age), developing hypertension (4 months of age) and established hypertension (6 months of age) stages. 20156423 2010
Autosomal Recessive Polycystic Kidney Disease
0.510 Biomarker disease RGD Our data suggest that hepatic cystogenesis in autosomal recessive polycystic kidney disease may involve increased fluid accumulation because of overexpression and abnormal location of AQP1, CFTR, and AE2 in cystic cholangiocytes. 18988797 2008
Autosomal Recessive Polycystic Kidney Disease
0.510 Biomarker disease CTD_human Our data suggest that hepatic cystogenesis in autosomal recessive polycystic kidney disease may involve increased fluid accumulation because of overexpression and abnormal location of AQP1, CFTR, and AE2 in cystic cholangiocytes. 18988797 2008
Autosomal Recessive Polycystic Kidney Disease
0.510 AlteredExpression disease BEFREE Our data suggest that hepatic cystogenesis in autosomal recessive polycystic kidney disease may involve increased fluid accumulation because of overexpression and abnormal location of AQP1, CFTR, and AE2 in cystic cholangiocytes. 18988797 2008
CUI: C0030193
Disease: Pain
Pain
0.340 GeneticVariation phenotype BEFREE AQP1 gene deletion can cause a large number of abnormalities including the disturbance in epithelial fluid secretion, polyhydramnios, deficiency of urinary concentrating function, and impairment of pain perception. 31023968 2019
CUI: C0030193
Disease: Pain
Pain
0.340 GeneticVariation phenotype BEFREE AQP1 rs28362731 was significantly associated with thrombocytopenia (unadjusted: OR = 3.73, 95% CI = 1.00-13.84, P = 0.049; adjusted for pain: OR = 4.63, 95% CI = 1.13-19.05, P = 0.034) in additive model. 30840592 2019
CUI: C0030193
Disease: Pain
Pain
0.340 Biomarker phenotype BEFREE Using this approach, we showed that the leprosy miRNA profile in blood is distinct from that in lesional skin as well as that four main groups of genes are the targets of leprosy miRNA: (1) recognition and phagocytosis, with activation of immune effector cells, where the immunosuppressant profile of LL and immunoresponsive profile of TT are clearly affected by miRNA expression; (2) apoptosis, with supportive data for an antiapoptotic leprosy profile based on <i>BCL2, MCL1</i>, and <i>CASP8</i> expression; (3) Schwann cells (SCs), demyelination and epithelial-mesenchymal transition (EMT), supporting a role for different developmental or differentiation gene families, such as Sox, Zeb, and Hox; and (4) loss of sensation and neuropathic pain, revealing that <i>RHOA, ROCK1, SIGMAR1</i>, and aquaporin-1 (<i>AQP1</i>) may be involved in the loss of sensation or leprosy pain, indicating possible new therapeutic targets. 29593724 2018
CUI: C0030193
Disease: Pain
Pain
0.340 Biomarker phenotype BEFREE Functional studies using knockout mice have suggested the involvement of AQP1 in peripheral pain perception. 22476045 2013
CUI: C0030193
Disease: Pain
Pain
0.340 Biomarker phenotype CTD_human AQP1 is, thus, a novel target for pain management. 20018876 2010
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.320 AlteredExpression group BEFREE When ovarian carcinomas were divided by histological types, high AQP5 expression correlated with poorer prognosis in serous carcinoma (P = 0.015), and low AQP1 expression correlated with poorer prognosis in clear cell carcinomas (P = 0.0055). 30022455 2018
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.320 AlteredExpression group BEFREE Based on RT-PCR of 13 AQPs examined, AQP1, 3, 4, 5 and 11 were expressed in human gastric cancers or normal gastric tissues, and AQP3, 4 and 5 exhibited differential expression between human gastric carcinomas and corresponding normal tissues, which was confirmed by Western blot analyses. 20106632 2010
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.320 Biomarker group CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462 2002
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
0.310 Biomarker disease BEFREE Aquaporin-1 (AQP1) is a candidate oncogene that is epigenetically modified in adenoid cystic carcinoma (ACC). 24493792 2014
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
0.310 Biomarker disease CTD_human Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma. 16762588 2006
Familial primary pulmonary hypertension
0.300 Biomarker disease GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961 2018
2-oxo-hept-3-ene-1,7-dioate hydratase activity
0.300 Biomarker phenotype GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961 2018
CUI: C0013608
Disease: Edema, Cardiac
Edema, Cardiac
0.300 Biomarker disease CTD_human The involvement of AQP1 in heart oedema induced by global myocardial ischemia. 22865611 2013
CUI: C0036981
Disease: Endotoxic shock
Endotoxic shock
0.300 Biomarker phenotype CTD_human Induced expression and functional effects of aquaporin-1 in human leukocytes in sepsis. 24028651 2013
CUI: C0036983
Disease: Septic Shock
Septic Shock
0.300 Biomarker phenotype CTD_human Induced expression and functional effects of aquaporin-1 in human leukocytes in sepsis. 24028651 2013