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: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 7 0.710 None 1.000 7 7 2006 2018
CUI: C1112261
Disease: Gaze palsy
Gaze palsy 		disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
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: C4510873
Disease: Atypical juvenile parkinsonism
Atypical juvenile parkinsonism 		disease Disease or Syndrome 4 0.010 None 1.000 1 2011 2011
CUI: C2242579
Disease: Lingual dystonia
Lingual dystonia 		phenotype Sign or Symptom 4 0.100 None 0
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: 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: 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: C4025609
Disease: EMG: axonal abnormality
EMG: axonal abnormality 		phenotype Pathologic Function 6 4 0.100 None 0
CUI: C4476759
Disease: Stooped posture
Stooped posture 		phenotype Nervous System Diseases Finding 6 0.100 None 0
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy 		disease Disease or Syndrome 7 1 0.100 None 0
CUI: C3805040
Disease: Phospholipidosis
Phospholipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C1853406
Disease: Difficulty in tongue movements
Difficulty in tongue movements 		phenotype Finding 8 0.100 None 0
CUI: C2674737
Disease: Abnormality of finger
Abnormality of finger 		phenotype Musculoskeletal Diseases Anatomical Abnormality 8 1 0.100 None 0
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 134 0.010 None 1.000 1 2010 2010
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 9 3 0.100 None 0
CUI: C1846017
Disease: Progressive pes cavus
Progressive pes cavus 		phenotype Finding 9 0.100 None 0
CUI: C2748610
Disease: Progressive extrapyramidal movement disorder
Progressive extrapyramidal movement disorder 		phenotype Finding 9 0.100 None 0
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		phenotype Anatomical Abnormality 9 1 0.100 None 0
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		disease Nervous System Diseases Disease or Syndrome 11 16 1.000 None 0.981 54 15 1991 2019
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: 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: 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: C1859736
Disease: Progressive spastic quadriplegia
Progressive spastic quadriplegia 		phenotype Finding 12 2 0.100 None 0