Source: CTD_human

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 28 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 0 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 0 0 1996 2019
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0741160
Disease: Aortic Aneurysm, Ruptured
Aortic Aneurysm, Ruptured 		disease 0.500 None 1.000 2 0 1990 2015
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 None 1.000 1 0 2012 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group 0.320 None 1.000 2 0 2011 2017
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.310 None 1.000 1 0 2007 2007
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0751377
Disease: Neurologic Dysfunction
Neurologic Dysfunction 		phenotype 0.300 None 1.000 2 0 2012 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0751378
Disease: Neurologic Signs
Neurologic Signs 		phenotype 0.300 None 1.000 2 0 2012 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0521654
Disease: Neurologic Deficits
Neurologic Deficits 		group 0.300 None 1.000 2 0 2012 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0027854
Disease: Neurologic Manifestations
Neurologic Manifestations 		phenotype 0.300 None 1.000 2 0 2012 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0746857
Disease: Focal Neurologic Deficits
Focal Neurologic Deficits 		phenotype 0.300 None 1.000 2 0 2012 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0003496
Disease: Aortic Rupture
Aortic Rupture 		disease 0.300 None 1.000 2 0 1990 2015
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0422837
Disease: Neurological observations
Neurological observations 		group 0.300 None 1.000 2 0 2012 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0524611
Disease: Cryptogenic Chronic Hepatitis
Cryptogenic Chronic Hepatitis 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0522224
Disease: Paralysed
Paralysed 		phenotype 0.300 None 1.000 1 0 2012 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype 0.300 None 1.000 1 0 2012 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0278161
Disease: Ataxia, Motor
Ataxia, Motor 		phenotype 0.300 None 1.000 1 0 2012 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease 0.300 None 1.000 1 0 2012 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0312854
Disease: Extravascular Hemolysis
Extravascular Hemolysis 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		phenotype 0.300 None 1.000 1 0 2012 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory 		phenotype 0.300 None 1.000 1 0 2012 2012
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory 		phenotype 0.300 None 1.000 1 0 2012 2012