ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease CLINVAR
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
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 CausalMutation disease CLINVAR
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 Biomarker disease CTD_human
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 GeneticVariation disease CLINVAR
CUI: C0741160
Disease: Aortic Aneurysm, Ruptured
Aortic Aneurysm, Ruptured 		0.500 Biomarker disease MGD
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.400 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.400 CausalMutation phenotype CLINVAR
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.200 Biomarker disease MGD
CUI: C0265010
Disease: Ruptured thoracic aortic aneurysm
Ruptured thoracic aortic aneurysm 		0.200 Biomarker disease MGD
CUI: C0265012
Disease: Ruptured abdominal aortic aneurysm
Ruptured abdominal aortic aneurysm 		0.200 Biomarker disease MGD
CUI: C1305122
Disease: Thoracoabdominal aortic aneurysm, ruptured
Thoracoabdominal aortic aneurysm, ruptured 		0.200 Biomarker disease MGD
CUI: C0156273
Disease: Bladder Diverticulum
Bladder Diverticulum 		0.110 Biomarker disease HPO
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0014868
Disease: Esophagitis
Esophagitis 		0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO