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: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.900 Biomarker CTD_human

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 GENOMICS_ENGLAND

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 Biomarker CTD_human

Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.300 Biomarker GENOMICS_ENGLAND

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 Hydrocortisone rapidly induces aortic rupture in a genetically susceptible mouse. 2346371

1990
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation UNIPROT Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection. 7977350

1994
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CLINGEN Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection. 7977350

1994
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker CLINGEN Genomic DNA of 41 unrelated patients affected with the classical severe form of Menkes disease was investigated for point mutations in the ATP7A gene (previously designated as the "MNK" gene). 8981948

1997
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation UNIPROT Genomic DNA of 41 unrelated patients affected with the classical severe form of Menkes disease was investigated for point mutations in the ATP7A gene (previously designated as the "MNK" gene). 8981948

1997
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 GeneticVariation UNIPROT A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. 9246006

1997
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation UNIPROT Mutation spectrum of ATP7A, the gene defective in Menkes disease. 10079817

1999
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation UNIPROT We identified three novel mutations of the MNK gene in three unrelated Japanese patients with classical Menkes disease by analyzing reverse-transcriptase polymerase chain reaction products and genomic DNA of the MNK gene. 10319589

1999
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation UNIPROT Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. 10401004

1999
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 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 GeneticVariation UNIPROT ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. 11241493

2001
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 GeneticVariation UNIPROT Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. 11350187

2001
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 GeneticVariation UNIPROT The data from the present report support the concepts that (1) OHS results from lower levels of functional ATP7A and (2) ATP7A does not require the dileucine motif to function in copper efflux. 11431706

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 The Menkes protein (MNK; ATP7A) is a copper-transporting P-type ATPase that is defective in the copper deficiency disorder, Menkes disease. 12228238

2002
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 GENOMICS_ENGLAND The present data suggests that gross deletion of ATP7A is the disease-causing mutation in 14.9% of the Menkes disease patients. 14635105

2003
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Early development of occipital horns in a classical Menkes patient. 15372525

2004