Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		0.300 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: C4316903
Disease: Absence Seizures
Absence Seizures 		0.300 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: C0234376
Disease: Action Tremor
Action Tremor 		0.300 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: C0002871
Disease: Anemia
Anemia 		0.300 Biomarker CTD_human Investigation of iron metabolism in mice expressing a mutant Menke's copper transporting ATPase (Atp7a) protein with diminished activity (Brindled; Mo (Br) (/y) ). 23776592

2013
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0741160
Disease: Aortic Aneurysm, Ruptured
Aortic Aneurysm, Ruptured 		0.500 Biomarker CTD_human Bone marrow from blotchy mice is dispensable to regulate blood copper and aortic pathologies but required for inflammatory mediator production in LDLR-deficient mice during chronic angiotensin II infusion. 25449986

2015
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0741160
Disease: Aortic Aneurysm, Ruptured
Aortic Aneurysm, Ruptured 		0.500 Biomarker CTD_human Hydrocortisone rapidly induces aortic rupture in a genetically susceptible mouse. 2346371

1990
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0003496
Disease: Aortic Rupture
Aortic Rupture 		0.300 Biomarker CTD_human Bone marrow from blotchy mice is dispensable to regulate blood copper and aortic pathologies but required for inflammatory mediator production in LDLR-deficient mice during chronic angiotensin II infusion. 25449986

2015
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0003496
Disease: Aortic Rupture
Aortic Rupture 		0.300 Biomarker CTD_human Hydrocortisone rapidly induces aortic rupture in a genetically susceptible mouse. 2346371

1990
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0004134
Disease: Ataxia
Ataxia 		0.300 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: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		0.300 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: C0278161
Disease: Ataxia, Motor
Ataxia, Motor 		0.300 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: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		0.300 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: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.300 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: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures 		0.300 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: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		0.300 Biomarker CTD_human Aberrant expression of copper associated genes after copper accumulation in COMMD1-deficient dogs. 25053573

2015
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0149519
Disease: Chronic Persistent Hepatitis
Chronic Persistent Hepatitis 		0.300 Biomarker CTD_human Aberrant expression of copper associated genes after copper accumulation in COMMD1-deficient dogs. 25053573

2015
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures 		0.300 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: C0234374
Disease: Coarse Tremor
Coarse Tremor 		0.300 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: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.300 Biomarker CTD_human Copper-transporting P-type ATPase, ATP7A, confers multidrug resistance and its expression is related to resistance to SN-38 in clinical colon cancer. 17510416

2007
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		0.300 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: C0234371
Disease: Continuous Tremor
Continuous Tremor 		0.300 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: C4048158
Disease: Convulsions
Convulsions 		0.300 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: C0751494
Disease: Convulsive Seizures
Convulsive Seizures 		0.300 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: C0524611
Disease: Cryptogenic Chronic Hepatitis
Cryptogenic Chronic Hepatitis 		0.300 Biomarker CTD_human Aberrant expression of copper associated genes after copper accumulation in COMMD1-deficient dogs. 25053573

2015
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.400 Biomarker GENOMICS_ENGLAND Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 20170900

2010