ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.360 GeneticVariation group BEFREE We hereby report the association of liver disease with homozygous mutations in the conserved ATP hinge region of exon 18 of the ATP7B gene. 20485189 2010
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.360 Biomarker group BEFREE Decreased biliary copper excretion and reduced incorporation of copper into apoceruloplasmin caused by defunctionalization of ATP7B protein lead to accumulation of copper in many tissues and organs, including liver, brain, and cornea, finally resulting in liver disease and extrapyramidal symptoms. 26112727 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.360 Biomarker group CTD_human In this cell-free system, copper induced thiol modifications of three abundant mitochondrial membrane proteins, and this correlated with reversible intramitochondrial membrane crosslinking, which was also observed in liver mitochondria from Atp7b–/– rats. 21364284 2011
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.360 GeneticVariation group BEFREE Wilson's disease is an autosomal recessive disorder characterized by liver disease and/or neurologic deficits due to copper accumulation and is caused by pathogenic mutations in the ATP7B gene. 28856630 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.360 Biomarker group BEFREE Activation of liver X receptor/retinoid X receptor pathway ameliorates liver disease in Atp7B(-/-) (Wilson disease) mice. 26679751 2016
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.360 Biomarker group BEFREE Four rodent models with ATP7B gene defects have been described - the Long-Evans Cinnamon (LEC) rat, inbred mouse models (toxic milk (tx), the Jackson Laboratory toxic milk (tx-j)), and the genetically engineered ATP7B<sup>-/-</sup> (knockout) mouse - all of which develop liver disease to different extents. 28433110 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.360 Biomarker group BEFREE The ATP7B-classical form with hypoceruloplasminemia has primary hepatopathy and late extra-hepatic complications, while the severe hepatic form is free from ATP7B mutation and hypoceruloplasminemia, and silently progresses to liver failure. 29882374 2018
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.340 Biomarker group CTD_human Incidences of spontaneous liver tumors in LEC, WKAH.C-Atp7b and WKAH rats correlated with hepatic copper and iron concentrations. 11509115 2001
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.340 Biomarker group BEFREE The aim of this study was to clarify the mechanism underlying ATP7B-mediated copper detoxification by investigating endogenous ATP7B localization in the HepG2 hepatoma cell line and its ability to mediate vesicular sequestration of excess intracellular copper. 16472602 2006
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.340 GeneticVariation group BEFREE Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines. 12557139 2003
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.340 Biomarker group BEFREE Copper-resistant hepatoma HepG2 cell lines lacking ATP7B were generated. 28805879 2017
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.340 Biomarker group BEFREE The effect of zinc and D-penicillamine in a stable human hepatoma ATP7B knockout cell line. 24892424 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.320 Biomarker group CTD_human Copper-transporting P-type adenosine triphosphatase (ATP7B) is expressed in human breast carcinoma. 11802810 2002
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.320 Biomarker group BEFREE These results indicate that the analysis of the ATP7B gene and/or protein will be helpful for the choice of chemotherapy in patients with human solid carcinomas. 12820478 2003
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.320 Biomarker group CTD_human Copper-transporting P-type adenosine triphosphatase (ATP7B) as a cisplatin based chemoresistance marker in ovarian carcinoma: comparative analysis with expression of MDR1, MRP1, MRP2, LRP and BCRP. 12216079 2002
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.320 Biomarker group BEFREE Copper-transporting P-type adenosine triphosphatase (ATP7B) is reportedly associated with platinum drug resistance in various solid carcinomas. 18636185 2008
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.310 Biomarker group CTD_human In conclusion, ATP7B mRNA and protein expression in colorectal tumors is associated with clinical outcome to oxaliplatin/5FU. 19296535 2009
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.310 AlteredExpression group BEFREE In conclusion, ATP7B mRNA and protein expression in colorectal tumors is associated with clinical outcome to oxaliplatin/5FU. 19296535 2009
CUI: C0019158
Disease: Hepatitis
Hepatitis
0.310 Biomarker group CTD_human Gene expression in the liver of Long-Evans cinnamon rats during the development of hepatitis. 14574444 2003
CUI: C0019158
Disease: Hepatitis
Hepatitis
0.310 Biomarker group CTD_human Dietary polyunsaturated fatty acids suppress acute hepatitis, alter gene expression and prolong survival of female Long-Evans Cinnamon rats, a model of Wilson disease. 15135151 2004
CUI: C0019158
Disease: Hepatitis
Hepatitis
0.310 GeneticVariation group LHGDN Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease. 17718866 2007
CUI: C0026640
Disease: Mouth Neoplasms
Mouth Neoplasms
0.300 Biomarker group CTD_human Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) as a chemoresistance marker in human oral squamous cell carcinoma treated with cisplatin. 12509969 2003
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.300 Biomarker group CTD_human Copper signaling axis as a target for prostate cancer therapeutics. 25320179 2014
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.300 Biomarker group CTD_human Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) as a chemoresistance marker in human oral squamous cell carcinoma treated with cisplatin. 12509969 2003
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.300 Biomarker group CTD_human Abnormal hepatobiliary and circulating lipid metabolism in the Long-Evans Cinnamon rat model of Wilson's disease. 17303181 2007