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: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 51 32 0.080 None 1.000 8 2007 2018
CUI: C1843369
Disease: Vertical supranuclear gaze palsy
Vertical supranuclear gaze palsy 		disease Disease or Syndrome 18 2 0.100 None 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 151 14 0.100 None 0
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy 		disease Disease or Syndrome 7 1 0.100 None 0
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.110 None < 0.001 1 2019 2019
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 55 10 0.100 None 0
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2018 2018
CUI: C0392678
Disease: Swallowing problem
Swallowing problem 		phenotype Digestive System Diseases Sign or Symptom 13 1 0.010 None 1.000 1 2010 2010
CUI: C1720037
Disease: Supranuclear gaze palsy
Supranuclear gaze palsy 		phenotype Finding 19 1 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C4476759
Disease: Stooped posture
Stooped posture 		phenotype Nervous System Diseases Finding 6 0.100 None 0
CUI: C0234378
Disease: Static Tremor
Static Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 62 3 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 86 7 0.100 None 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.030 None 1.000 3 2017 2019
CUI: C2931356
Disease: Spastic paraplegia type 5A, recessive
Spastic paraplegia type 5A, recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2010 2010
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: 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: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.100 None 0
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		phenotype Finding 29 4 0.100 None 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy 		phenotype Finding 23 1 0.100 None 0
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		phenotype Nervous System Diseases Sign or Symptom 60 12 0.100 None 0
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: C0262630
Disease: Reduced concentration span
Reduced concentration span 		phenotype Behavior and Behavior Mechanisms Finding 77 2 0.100 None 0
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		phenotype Finding 38 0.100 None 0