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: C0333463
Disease: Senile Plaques
Senile Plaques
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.200 None 1.000 43 1 1993 2019
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 123 10 0.100 None 1.000 11 1999 2019
CUI: C0521175
Disease: Neuropil Threads
Neuropil Threads
disease Acquired Abnormality 13 0.040 None 1.000 4 1994 2017
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement
disease Anatomical Abnormality 17 1 0.100 None 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.100 None 0
Morphological abnormality of the pyramidal tract
disease Anatomical Abnormality 18 0.100 None 0
Abnormal brain FDG positron emission tomography
disease Anatomical Abnormality 18 0.100 None 0
Neurofibrillary degeneration (morphologic abnormality)
phenotype Cell or Molecular Dysfunction 21 0.100 None 0
CUI: C0005938
Disease: Bone Density
Bone Density
phenotype Clinical Attribute 138 654 0.100 None 1.000 1 1 2012 2012
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
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
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 114 7 0.010 None 1.000 1 2012 2012
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 151 2 0.100 None 0
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test
phenotype Diagnostic Procedure 54 314 0.100 None 1.000 1 1 2012 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.700 None 0.990 997 23 1988 2020
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.800 None 0.978 460 43 1997 2020
CUI: C0949664
Disease: Tauopathies
Tauopathies
group Nervous System Diseases Disease or Syndrome 245 43 0.600 None 0.994 359 14 1999 2020
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.400 None 0.991 340 10 1998 2020
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 83 0.800 None 0.975 243 28 1998 2020
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 176 52 0.700 None 0.953 149 10 1995 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.500 None 0.972 142 40 1999 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.700 None 1.000 101 11 1998 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.100 None 0.938 65 1990 2020