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: C0270920
Disease: Supranuclear paralysis
Supranuclear paralysis
disease Nervous System Diseases Disease or Syndrome 1 1 0.030 None 1.000 3 1 1999 2011
CUI: C0751421
Disease: Hemispatial Neglect
Hemispatial Neglect
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1 1 0.010 None 1.000 1 1 2011 2011
CUI: C1838313
Disease: Pick Complex
Pick Complex
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 1 0.010 None 1.000 1 2003 2003
Supranuclear Palsy, Progressive, 1, Atypical
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.710 None 1.000 1 4 2007 2007
CUI: C0333454
Disease: Granulovacuolar degeneration
Granulovacuolar degeneration
phenotype Pathologic Function 1 0.100 None 0
CUI: C0860515
Disease: Freezing of gait
Freezing of gait
phenotype Finding 1 0.100 None 0
CUI: C1836151
Disease: Frontolimbic dementia
Frontolimbic dementia
phenotype Nervous System Diseases; Mental Disorders Finding 1 0.100 None 0
CUI: C4024962
Disease: Axial muscle stiffness
Axial muscle stiffness
phenotype Finding 1 0.100 None 0
CUI: C4732764
Disease: Tachylalia
Tachylalia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.100 None 0
CUI: C0454582
Disease: Semantic impairment
Semantic impairment
disease Disease or Syndrome 2 0.010 None 1.000 1 2005 2005
CUI: C0520789
Disease: Progressive subcortical gliosis
Progressive subcortical gliosis
disease Infections; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1999 1999
CUI: C1855353
Disease: Fixed facial expression
Fixed facial expression
phenotype Finding 2 0.100 None 0
CUI: C0001825
Disease: Agraphia
Agraphia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 3 1 0.010 None 1.000 1 1 2014 2014
CUI: C0007815
Disease: Cerebrospinal Fluid Rhinorrhea
Cerebrospinal Fluid Rhinorrhea
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Wounds and Injuries Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C1112261
Disease: Gaze palsy
Gaze palsy
disease Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
Non-Alzheimer's dementia (e.g., Lewy body dementia, vascular or multi-infarct dementia; mixed dementia; frontotemporal dementia such as Pick's disease; and dementia related to stroke, Parkinson's or Creutzfeldt-Jakob diseases)
disease Mental or Behavioral Dysfunction 3 0.010 None 1.000 1 2001 2001
CUI: C0392185
Disease: Verbal repetition
Verbal repetition
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 0.100 None 0
CUI: C0474420
Disease: Inappropriate sexual behavior
Inappropriate sexual behavior
phenotype Finding 3 1 0.100 None 0
CUI: C1761613
Disease: Conjunctival hyperemia
Conjunctival hyperemia
phenotype Eye Diseases Finding 3 0.100 None 0
CUI: C1856477
Disease: Slowed horizontal saccades
Slowed horizontal saccades
phenotype Finding 3 1 0.100 None 0
CUI: C3887667
Disease: Retrocollis
Retrocollis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 1 0.100 None 0
CUI: C4022574
Disease: Limb apraxia
Limb apraxia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 3 1 0.100 None 0
CUI: C4025710
Disease: Diminished movement
Diminished movement
phenotype Nervous System Diseases Finding 3 4 0.100 None 0
CUI: C0520716
Disease: Pallidopontonigral degeneration
Pallidopontonigral degeneration
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 4 1 0.040 None 1.000 4 1 2002 2010
CUI: C0262424
Disease: CNS DEGENERATION
CNS DEGENERATION
disease Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018