ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0840564
Disease: Rupture of bladder
Rupture of bladder 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 0.010 None 1.000 1 2020 2020
CUI: C1303076
Disease: Tortuous carotid artery
Tortuous carotid artery 		phenotype Finding 1 0.100 None 0
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 9 0.900 None 1.000 3 9 2004 2012
CUI: C1141933
Disease: Multi-organ disorder
Multi-organ disorder 		disease Disease or Syndrome 2 3 0.010 None 1.000 1 2017 2017
CUI: C4025031
Disease: Aplasia/hypoplasia of the humerus
Aplasia/hypoplasia of the humerus 		phenotype Finding 2 0.100 None 0
CUI: C4025537
Disease: Humerus varus
Humerus varus 		phenotype Anatomical Abnormality 2 1 0.100 None 0
CUI: C1836330
Disease: ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
ERYTHROKERATODERMIA VARIABILIS 3 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2019 2019
CUI: C1844689
Disease: Pelvic bone exostoses
Pelvic bone exostoses 		disease Musculoskeletal Diseases Neoplastic Process 3 0.100 None 0
CUI: C3276744
Disease: Absent tibia
Absent tibia 		phenotype Finding 3 0.100 None 0
CUI: C1832988
Disease: Metaphyseal spurs
Metaphyseal spurs 		phenotype Finding 4 2 0.100 None 0
CUI: C4021738
Disease: Abnormality of the pubic bone
Abnormality of the pubic bone 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C4025664
Disease: Abnormality of fibula morphology
Abnormality of fibula morphology 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4025831
Disease: Abnormal peripheral nervous system morphology
Abnormal peripheral nervous system morphology 		disease Anatomical Abnormality 4 2 0.100 None 0
CUI: C0012714
Disease: Disorder of copper metabolism
Disorder of copper metabolism 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.040 None 1.000 4 1996 2016
CUI: C0265010
Disease: Ruptured thoracic aortic aneurysm
Ruptured thoracic aortic aneurysm 		disease Respiratory Tract Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 5 0.200 None 0
CUI: C0265012
Disease: Ruptured abdominal aortic aneurysm
Ruptured abdominal aortic aneurysm 		disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 5 0.200 None 0
CUI: C1305122
Disease: Thoracoabdominal aortic aneurysm, ruptured
Thoracoabdominal aortic aneurysm, ruptured 		disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 5 0.200 None 0
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle 		phenotype Finding 5 2 0.100 None 0
CUI: C0422837
Disease: Neurological observations
Neurological observations 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.300 None 1.000 2 2012 2012
CUI: C0746857
Disease: Focal Neurologic Deficits
Focal Neurologic Deficits 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.300 None 1.000 2 2012 2012
CUI: C0751377
Disease: Neurologic Dysfunction
Neurologic Dysfunction 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.300 None 1.000 2 2012 2012
CUI: C0019054
Disease: Hemolysis (disorder)
Hemolysis (disorder) 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 6 0.300 None 1.000 1 2014 2014
CUI: C0312854
Disease: Extravascular Hemolysis
Extravascular Hemolysis 		disease Pathological Conditions, Signs and Symptoms Pathologic Function 6 0.300 None 1.000 1 2014 2014
CUI: C2936381
Disease: Neointima Formation
Neointima Formation 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 6 0.300 None 1.000 1 2010 2010
CUI: C4024618
Disease: Large iliac wings
Large iliac wings 		phenotype Finding 6 0.100 None 0