ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
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: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology
phenotype Anatomical Abnormality 9 1 0.100 None 0
CUI: C2674737
Disease: Abnormality of finger
Abnormality of finger
phenotype Musculoskeletal Diseases Anatomical Abnormality 8 1 0.100 None 0
Abnormality of the periventricular white matter
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality 45 7 0.100 None 0
Adult Neuronal Ceroid Lipofuscinosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 16 9 0.310 None 1.000 3 2011 2012
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 0
CUI: C0085623
Disease: Akinesia
Akinesia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 43 3 0.100 None 0
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.020 None 1.000 2 2008 2019
CUI: C0234517
Disease: Anarthria speech disorder
Anarthria speech disorder
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 2 0.100 None 0
CUI: C0003126
Disease: Anosmia
Anosmia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 40 4 0.100 None 0
CUI: C0085632
Disease: Apathy
Apathy
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 83 9 0.100 None 0
CUI: C1142448
Disease: Apraxia of eyelid
Apraxia of eyelid
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 5 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.110 None 1.000 1 2019 2019
CUI: C0751415
Disease: Atherosclerotic Parkinsonism
Atherosclerotic Parkinsonism
disease Nervous System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2012 2012
CUI: C4510873
Disease: Atypical juvenile parkinsonism
Atypical juvenile parkinsonism
disease Disease or Syndrome 4 0.010 None 1.000 1 2011 2011
CUI: C1868596
Disease: Atypical Parkinson Disease
Atypical Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 11 0.020 None 1.000 2 2019 2019
CUI: C4302185
Disease: Atypical Parkinsonism
Atypical Parkinsonism
disease Nervous System Diseases Disease or Syndrome 30 6 0.010 None 1.000 1 2007 2007
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2018 2018
Autosomal Dominant Juvenile Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2013 2013
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism
disease Nervous System Diseases Disease or Syndrome 34 3 0.300 None 1.000 1 2013 2013
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism
disease Nervous System Diseases Disease or Syndrome 33 1 0.340 None 1.000 5 2008 2013
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 218 11 0.100 None 0
CUI: C0005747
Disease: Blepharospasm
Blepharospasm
disease Eye Diseases Disease or Syndrome 44 6 0.100 None 0
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 4 2 2010 2019
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019