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 GENOMICS_ENGLAND Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 23035047

2012
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 GeneticVariation UNIPROT Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 20170900

2010
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 Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 20170900

2010
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 GermlineCausalMutation ORPHANET Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 20170900

2010
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 Early development of occipital horns in a classical Menkes patient. 15372525

2004
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