Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A (MNK) gene. 11092760

2000
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in a copper-transporting p-type ATPase (ATP7A) that normally delivers copper to the central nervous system. 15923132

2005
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Menkes disease, a fatal neurodegenerative disorder resulting in seizures, hypotonia, and failure to thrive, is due to inherited loss-of-function mutations in the gene encoding a copper-transporting ATPase (Atp7a) on the X chromosome. 17003121

2006
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Menkes disease (MD) is a genetic neurodegenerative disorder characterized by copper deficiency due to a defect in ATP7A. 22664332

2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Menkes disease (MD) is a disorder of copper transport caused by ATP7A mutations. 22728746

2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Menkes disease (MD), an X-linked recessive disorder of copper metabolism caused by mutations in the copper-transporting ATP7A gene, results in growth failure and severe neurodegeneration in early childhood. 24627433

2014
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human An important model of MD is the Mottled mouse, which possesses mutations in Atp7A. 17483305

2007
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human ATP7B activity is stimulated by PKCɛ in porcine liver. 25003971

2014
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B. 21242307

2011
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B. 22130675

2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Disturbances in copper metabolism caused by mutations in the ATP7A/Atp7a gene lead to severe metabolic syndromes Menkes disease in humans and the lethal mottled phenotype in mice. 20831904

2011
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease. 16435190

2005
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase. 11157799

2001
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Functional significance of the copper transporter ATP7 in peptidergic neurons and endocrine cells in Drosophila melanogaster. 22981378

2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Here, we analyzed changes in the systemic iron metabolism using an animal model of Menkes disease: copper-deficient mosaic mutant mice with dysfunction of the ATP7A copper transporter. 25247420

2014
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. 11350187

2001
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human In this study, a Menkes disease mutation, G1019D, located in the large cytoplasmic loop of MNK, was characterized in transfected cultured cells. 12221109

2002
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Mitochondrial involvement in genetically determined transition metal toxicity II. Copper toxicity. 16824500

2006
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Mutations in ATP7A result in Menkes disease, a disorder of copper metabolism. 26199316

2015
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Mutations in the MNK (ATP7A) gene result in Menkes disease, a fatal neurodegenerative copper deficiency disorder. 17009961

2007
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human One, ATP7A, is the protein nonfunctional in Menkes disease. 18779302

2008
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC). 22815746

2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human The essential requirement for copper in early development is dramatically illustrated by Menkes disease, a fatal neurodegenerative disorder of early childhood caused by loss-of-function mutations in the gene encoding the copper transporting ATPase ATP7A. 23064757

2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human The genes for two copper-transporting ATPases, ATP7A and ATP7B, are defective in the heritable disorders of copper imbalance, Menkes disease (MNK) and Wilson disease (WND), respectively. 14579150

2004
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CTD_human The Menkes protein (MNK; ATP7A) is a copper-transporting P-type ATPase that is defective in the copper deficiency disorder, Menkes disease. 12228238

2002