Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		disease 1.000 definitive 1.000 6 0 1953 2019
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		disease 0.900 None 1.000 3 0 2004 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		disease 0.800 strong 1.000 3 0 1996 2019
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease 0.400 strong 1.000 1 0 2010 2010
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		disease 0.300 limited 0 0