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
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: C0234238
Disease: Ache
Ache
0.300 Biomarker phenotype CTD_human Aquaporin-1 tunes pain perception by interaction with Na(v)1.8 Na+ channels in dorsal root ganglion neurons. 20018876 2010
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma
0.010 Biomarker disease BEFREE AQP1 immunoreactivity (-IR) was located in blood vessels and fibrocytes in the underlying stroma, without any apparent alteration in Meniere's specimens when compared with acoustic neuroma and autopsy specimens. 20461409 2010
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.030 AlteredExpression disease BEFREE The effect of erythropoietin (Epo) on AQP1 expression was determined in cultures of erythroleukemia UT-7 cells, dependent on Epo to survive. 27465156 2016
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.030 AlteredExpression disease BEFREE Human erythroleukemia HEL cells showed AQP1 transcript expression on RNase protection assay. 9480747 1998
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.030 Biomarker disease BEFREE We report here that aquaporin-1 (AQP1) is specifically induced by retinoic acid (RA) in human erythroleukemia HEL cells. 12051745 2002
CUI: C0262417
Disease: Acute on chronic pancreatitis
Acute on chronic pancreatitis
0.010 AlteredExpression disease BEFREE Bile acid treatment dose- and time-dependently decreased mRNA and protein expression of AQP1 and reduced expression of this channel was also demonstrated in patients suffering from acute and chronic pancreatitis. 30050452 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.030 AlteredExpression group BEFREE Overexpression of aquaporin 1 correlated with high postoperative adenocarcinoma metastasis ratios and unfavorable disease-free survival rates (P = .031). 21237499 2011
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.030 AlteredExpression group BEFREE Increased AQP1 expression in some human adenocarcinomas may be a consequence of angiogenesis and important for the formation or clearance of tumor edema. 15809704 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.030 Biomarker group BEFREE AQP1 knockout mouse models of human cancers showed marked inhibition of tumor-induced angiogenesis, and in pre-clinical studies of colon adenocarcinomas, forced over-expression of AQP1 was shown to increase angiogenesis, invasion and metastasis. 26912239 2016
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.030 AlteredExpression group LHGDN Increased AQP1 expression in some human adenocarcinomas may be a consequence of angiogenesis and important for the formation or clearance of tumor edema. 15809704 2005
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 AlteredExpression disease BEFREE Specifically, AQP1 and AQP5 overexpression in lung adenocarcinoma (AC) have been suggested to be involved in molecular mechanisms in lung cancer. 29106595 2017
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.010 AlteredExpression disease BEFREE Overexpression of Aquaporin-1 is a Prognostic Factor for Biochemical Recurrence in Prostate Adenocarcinoma. 27817002 2017
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
Adenoid cystic carcinoma of salivary gland
0.010 PosttranslationalModification disease BEFREE Aquaporin-1 promoter hypermethylation is associated with improved prognosis in salivary gland adenoid cystic carcinoma. 24493792 2014
CUI: C0851887
Disease: Adenoviral infections
Adenoviral infections
0.010 AlteredExpression group BEFREE We found that AQP1 expression was induced at a magnitude comparable to adenoviral infection, suggesting that AQP1 is primarily silenced through pretranscriptional mechanisms. 28072927 2017
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
0.030 AlteredExpression disease BEFREE Human erythroleukemia HEL cells showed AQP1 transcript expression on RNase protection assay. 9480747 1998
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
0.030 AlteredExpression disease BEFREE The effect of erythropoietin (Epo) on AQP1 expression was determined in cultures of erythroleukemia UT-7 cells, dependent on Epo to survive. 27465156 2016
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
0.030 Biomarker disease BEFREE We report here that aquaporin-1 (AQP1) is specifically induced by retinoic acid (RA) in human erythroleukemia HEL cells. 12051745 2002
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
0.020 Biomarker disease BEFREE The fact that AQP-1 was highly expressed at the dural attachment and invading front of meningioma may indicate that dural invasion of the meningioma may be facilitated by AQP-1-induced water flow and neovascularization. 18095114 2006
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
0.020 Biomarker disease BEFREE This unusual and unique case of atypical cystic meningioma in early infancy showed a high positivity to immunostaining of aquaporin 1, and this pattern could correlate with the coexistence both of cysts and subdural collections. 18498427 2008
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma
0.010 Biomarker disease BEFREE These results indicate pivotal roles for aquaporin-1 and -5 in the aggressive growth and metastatic potential of soft tissue sarcomas, suggesting that they are promising targets for the treatment of patients with intractable soft tissue sarcoma. 29258764 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 Biomarker disease BEFREE This review will focus on the role of AQP1 as a novel target for ocular disorders such as glaucoma and age-related macular degeneration, and it will discuss challenges and advances in identifying modulators of AQP1 function that could be useful in clinical applications. 28632458 2019
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
0.010 AlteredExpression disease BEFREE The immunohistochemistry showed the AQP-1 expression were strong-positive in PACG groups, but weak-positive in senile cataract and POAG group. 28730113 2017