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: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 19 4 0.300 None 1.000 2 2011 2012
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.020 None 1.000 2 2016 2018
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.020 None 1.000 2 2018 2019
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 22 4 0.300 None 1.000 2 2011 2012
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 52 73 0.300 None 1.000 2 2011 2012
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2009 2016
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 2 0.300 None 1.000 2 2011 2012
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: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease Disease or Syndrome 247 76 0.020 None 0.500 2 2009 2010
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2019 2019
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 143 82 0.010 None 1.000 1 2018 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2017 2017
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 53 11 0.010 None 1.000 1 2016 2016
CUI: C0030569
Disease: Secondary Parkinson Disease
Secondary Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 18 1 0.300 None 1.000 1 2012 2012
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 156 32 0.010 None 1.000 1 2019 2019
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.010 None 1.000 1 2010 2010
CUI: C0242423
Disease: Ramsay Hunt Paralysis Syndrome
Ramsay Hunt Paralysis Syndrome 		disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2013 2013
CUI: C0268279
Disease: Lipofuscinosis
Lipofuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		disease Nervous System Diseases Disease or Syndrome 17 25 0.010 None 1.000 1 2013 2013
CUI: C0270871
Disease: Facial Myokymia
Facial Myokymia 		phenotype Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 5 1 0.110 None 1.000 1 2018 2018
CUI: C0751414
Disease: Parkinson Disease, Secondary Vascular
Parkinson Disease, Secondary Vascular 		disease Nervous System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2012 2012
CUI: C0751415
Disease: Atherosclerotic Parkinsonism
Atherosclerotic Parkinsonism 		disease Nervous System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2012 2012
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 92 32 0.010 None 1.000 1 2012 2012
CUI: C0752097
Disease: Autosomal Dominant Juvenile Parkinson Disease
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