Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.100 GeneticVariation phenotype GWASDB Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis. 22675575 2012
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.100 GeneticVariation phenotype GWASDB Common variants at ten loci modulate the QT interval duration in the QTSCD Study. 19305409 2009
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.100 GeneticVariation phenotype GWASCAT Common variants at ten loci modulate the QT interval duration in the QTSCD Study. 19305409 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 Biomarker group BEFREE Intrarenal knockdown of ATP1B1 attenuated hypertension in SS.13<sup>BN26</sup> rats with intrarenal knockdown of miR-192-5p. 30595117 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 GeneticVariation group BEFREE We genotyped 87 single nucleotide polymorphisms (SNPs) from the ATP1B1, RGS5 and SELE genes in a well characterized cohort of 968 African-Americans and performed a case-control study to identify susceptibility alleles for hypertension and blood pressure regulation. 21881522 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 GeneticVariation group BEFREE We aimed to investigate the association between ATP1B1 polymorphisms with BP and hypertension in a Chinese population. 19563793 2009
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 Biomarker disease BEFREE In conclusion, miRNA-429, miRNA-206, and miRNA-184 and their target gene CCND1, as well as miRNA-140-3p and miRNA-142-5p and their target gene ATP1B1, might play key roles in ccRCC progression and could be useful biomarkers during ccRCC development. 29253611 2018
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 PosttranslationalModification disease BEFREE We also show that knockdown of the von Hippel-Lindau (VHL) tumor suppressor gene in RCC cell lines results in enhanced ATP1B1 promoter AT hypermethylation, which is accompanied by reduced expression of NaK-β. 24452105 2014
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.010 Biomarker disease BEFREE Recently, genome-wide association studies have also identified KANK4, LAMC1, and ATP1B1 as novel loci for FECD. 29799290 2018
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 AlteredExpression group BEFREE In conclusion, the TEP across the RPE depends on the expression of ATP1B1 and this regulates the secretion of PEDF by RPE cells and so may regulate the onset of retinal disease. 30160348 2018
CUI: C3839868
Disease: Cytogenetically normal acute myeloid leukemia
Cytogenetically normal acute myeloid leukemia 		0.010 Biomarker disease BEFREE Analysis of another CN-AML cohort confirmed that ATP1B1(high) is associated with shorter OS (P = 0.0046, n = 162). 26506237 2016
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 PosttranslationalModification disease BEFREE We also show that knockdown of the von Hippel-Lindau (VHL) tumor suppressor gene in RCC cell lines results in enhanced ATP1B1 promoter AT hypermethylation, which is accompanied by reduced expression of NaK-β. 24452105 2014
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.010 Biomarker disease BEFREE We also show that knockdown of the von Hippel-Lindau (VHL) tumor suppressor gene in RCC cell lines results in enhanced ATP1B1 promoter AT hypermethylation, which is accompanied by reduced expression of NaK-β. 24452105 2014
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		0.010 AlteredExpression disease BEFREE We hypothesized that DNA methylation plays a role in silencing the NaK-β gene (ATP1B1) expression in kidney cancers. 24452105 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE We find that ATP1B1 serves to limit migration and invasion in breast cancer cells. 22330642 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE We find that ATP1B1 serves to limit migration and invasion in breast cancer cells. 22330642 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE We find that ATP1B1 serves to limit migration and invasion in breast cancer cells. 22330642 2012
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		0.010 GeneticVariation disease BEFREE Six recurrent genetic targets were identified in the CRPCs; ATP1B1, AR, FAM110B, LAS1L, MYC, and YIPF6. 21919029 2012