Source: ANIMAL_MODELS

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 MGD Mottled-dappled (Mo-dp) is a mouse model of Menkes disease caused by a large, previously uncharacterized deletion in the 5' region of Atp7a, the mouse ortholog of ATP7A. 25456742

2014
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker MGD 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 MGD Impaired growth hormone-releasing hormone neurons ultrastructure and peptide accumulation in the arcuate nucleus of mosaic mice with altered copper metabolism. 19375486

2009
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker MGD Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease. 16338116

2006
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker MGD Metabolic consequences of the cytochrome c oxidase deficiency in brain of copper-deficient Mo(vbr) mice. 10098864

1999
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker MGD A 31P-magnetic resonance spectroscopy and biochemical study of the mo(vbr) mouse: potential model for the mitochondrial encephalomyopathies. 9342151

1997
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker MGD While the spectrum of mutations detected in the Atp7a murine gene provides an explanation for at least part of the wide phenotypic variation observed in mottled mutant mice, there is a singular absence of deletions which are associated with a sizeable fraction of human Menkes syndrome cases. 9147646

1997
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker MGD Urate oxidase activity and copper content in the liver of macular mutant mouse, a model animal for human congenital copper deficiency, Menkes' kinky hair disease. 1819648

1991
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker MGD Cadmium, zinc, and copper metabolism in the mottled mouse, an animal model for Menkes' kinky hair syndrome. 6685755

1983
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker MGD A sex-linked defect in the cross-linking of collagen and elastin associated with the mottled locus in mice. 4808708

1974
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker MGD Primary defect in copper transport underlies mottled mutants in the mouse. 4858102

1974
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker MGD [Total sex-linkage in the house mouse]. 13103353

1953
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.900 Biomarker MGD

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0741160
Disease: Aortic Aneurysm, Ruptured
Aortic Aneurysm, Ruptured 		0.500 Biomarker MGD

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.290 Biomarker RGD Loss of divalent metal transporter 1 function promotes brain copper accumulation and increases impulsivity. 27331785

2016
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.210 Biomarker RGD Changes in copper metabolism in different compartments of the brain in rats with induced fibrillogenesis. 20027333

2009
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		0.200 Biomarker RGD Disruption of copper-dependent signaling pathway in the nitrofen-induced congenital diaphragmatic hernia. 25319798

2015
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0853897
Disease: Diabetic Cardiomyopathies
Diabetic Cardiomyopathies 		0.200 Therapeutic RGD Diabetic cardiomyopathy is associated with defective myocellular copper regulation and both defects are rectified by divalent copper chelation. 24927960

2014
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0157946
Disease: Osteoarthrosis, localized, not specified whether primary or secondary
Osteoarthrosis, localized, not specified whether primary or secondary 		0.200 Biomarker MGD Essential role for the Menkes ATPase in activation of extracellular superoxide dismutase: implication for vascular oxidative stress. 16371425

2006
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0029810
Disease: Other specified iron deficiency anemias
Other specified iron deficiency anemias 		0.200 Biomarker RGD Identification of differentially expressed genes in response to dietary iron deprivation in rat duodenum. 15637178

2005
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0157946
Disease: Osteoarthrosis, localized, not specified whether primary or secondary
Osteoarthrosis, localized, not specified whether primary or secondary 		0.200 Biomarker MGD Blotchy mice: a model of osteoarthritis associated with a metabolic defect. 8895222

1996
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.200 Biomarker MGD

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0265010
Disease: Ruptured thoracic aortic aneurysm
Ruptured thoracic aortic aneurysm 		0.200 Biomarker MGD

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0265012
Disease: Ruptured abdominal aortic aneurysm
Ruptured abdominal aortic aneurysm 		0.200 Biomarker MGD

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C1305122
Disease: Thoracoabdominal aortic aneurysm, ruptured
Thoracoabdominal aortic aneurysm, ruptured 		0.200 Biomarker MGD