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: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 20 99 1.000 definitive 1.000 132 99 1953 2019
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: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 22 10 0.800 strong 1.000 31 10 1996 2019
CUI: C0741160
Disease: Aortic Aneurysm, Ruptured
Aortic Aneurysm, Ruptured
disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 13 1 0.500 None 1.000 2 1990 2015
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.400 None 1.000 1 2 2012 2012
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 70 21 0.400 strong 1.000 1 2010 2010
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.320 None 1.000 4 1 2011 2017
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.310 None 1.000 1 2007 2007
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: C0751378
Disease: Neurologic Signs
Neurologic Signs
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 1 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: C0027854
Disease: Neurologic Manifestations
Neurologic Manifestations
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 0.300 None 1.000 2 2012 2012
CUI: C0003496
Disease: Aortic Rupture
Aortic Rupture
disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 22 0.300 None 1.000 2 1990 2015
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: C0521654
Disease: Neurologic Deficits
Neurologic Deficits
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 4 0.300 None 1.000 2 2012 2012
CUI: C0234379
Disease: Resting Tremor
Resting Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 57 5 0.300 None 1.000 1 2012 2012
CUI: C0022333
Disease: Jacksonian Seizure
Jacksonian Seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2012 2012
CUI: C0234378
Disease: Static Tremor
Static Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 62 3 0.300 None 1.000 1 2012 2012
CUI: C0234381
Disease: Darkness Tremor
Darkness Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2012 2012
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 35 1 0.300 None 1.000 1 2012 2012
CUI: C0524611
Disease: Cryptogenic Chronic Hepatitis
Cryptogenic Chronic Hepatitis
disease Digestive System Diseases Disease or Syndrome 22 0.300 None 1.000 1 2015 2015
CUI: C0234377
Disease: Passive Tremor
Passive Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2012 2012
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 13 0.300 None 1.000 1 2012 2012
CUI: C0235083
Disease: Nerve Tremors
Nerve Tremors
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2012 2012
CUI: C0235082
Disease: Tremor, Muscle
Tremor, Muscle
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 9 0.300 None 1.000 1 2012 2012