ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.900 Biomarker disease GENOMICS_ENGLAND Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 23035047 2012
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.900 GeneticVariation disease UNIPROT Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 20170900 2010
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.900 Biomarker disease GENOMICS_ENGLAND Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 20170900 2010
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.900 GermlineCausalMutation disease ORPHANET Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 20170900 2010
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.900 Biomarker disease GENOMICS_ENGLAND Early development of occipital horns in a classical Menkes patient. 15372525 2004
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.900 Biomarker disease CTD_human
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.900 Biomarker disease MGD
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.900 CausalMutation disease CLINVAR
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.900 GeneticVariation disease CLINVAR
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.900 Biomarker disease GENOMICS_ENGLAND