MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
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: C4021580
Disease: Progressive extrapyramidal muscular rigidity
Progressive extrapyramidal muscular rigidity 		phenotype Finding 4 0.100 None 0
CUI: C0850918
Disease: Degeneration of spine
Degeneration of spine 		disease Musculoskeletal Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
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: C1847609
Disease: Deficit in phonologic short-term memory
Deficit in phonologic short-term memory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 5 0.100 None 0
CUI: C4024929
Disease: Slowed slurred speech
Slowed slurred speech 		phenotype Finding 5 0.100 None 0
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 6 6 0.700 None 1.000 9 6 1999 2014
CUI: C4551862
Disease: Ophthalmoplegia, Progressive Supranuclear
Ophthalmoplegia, Progressive Supranuclear 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 4 2002 2014
CUI: C0235857
Disease: Decreased lacrimation
Decreased lacrimation 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Finding 6 1 0.100 None 0
CUI: C1836149
Disease: Axial dystonia
Axial dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.100 None 0
CUI: C1858680
Disease: Familial encephalopathy with neuroserpin inclusion bodies
Familial encephalopathy with neuroserpin inclusion bodies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 4 0.010 None 1.000 1 2002 2002
CUI: C0424304
Disease: Inappropriate laughter
Inappropriate laughter 		phenotype Finding 7 2 0.100 None 0
CUI: C0338630
Disease: Senile Paranoid Dementia
Senile Paranoid Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 8 0.300 None 1.000 2 2002 2012
CUI: C0003113
Disease: Anomia
Anomia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 8 0.100 None 0
CUI: C0234502
Disease: Visual Agnosia
Visual Agnosia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 8 0.100 None 0
CUI: C2750913
Disease: Neuronal loss in basal ganglia
Neuronal loss in basal ganglia 		phenotype Finding 8 0.100 None 0
CUI: C4072928
Disease: Spoken Word Recognition Deficit
Spoken Word Recognition Deficit 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 8 0.100 None 0
CUI: C0349081
Disease: Dementia in Parkinson's disease
Dementia in Parkinson's disease 		disease Disease or Syndrome 9 2 0.020 None 1.000 2 1 1999 2011
CUI: C0043121
Disease: Wernicke Encephalopathy
Wernicke Encephalopathy 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 9 1 0.010 None 1.000 1 2008 2008
CUI: C0553604
Disease: Myotonic Disorders
Myotonic Disorders 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2004 2004
CUI: C1847651
Disease: Rapidly progressive dementia
Rapidly progressive dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 9 4 0.010 None 1.000 1 2001 2001
CUI: C2931784
Disease: Amyloid angiopathy
Amyloid angiopathy 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 9 3 0.010 None 1.000 1 2018 2018
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		disease Nervous System Diseases Disease or Syndrome 9 44 0.010 None 1.000 1 1999 1999
CUI: C0002018
Disease: Alexia
Alexia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 9 0.100 None 0
CUI: C0919974
Disease: Abulia
Abulia 		disease Mental or Behavioral Dysfunction 9 0.100 None 0
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 10 4 0.010 None 1.000 1 2016 2016