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: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 234 23 0.040 1.000 4 2011 2016
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 300 27 0.020 1.000 2 2016 2016
CUI: C0005937
Disease: Bone Cysts
Bone Cysts
phenotype Musculoskeletal Diseases; Neoplasms Anatomical Abnormality 16 3 0.140 1.000 4 3 2003 2010
CUI: C0016506
Disease: Foot Deformities
Foot Deformities
group Musculoskeletal Diseases Anatomical Abnormality 47 2 0.100 0
CUI: C0018564
Disease: Hand deformities
Hand deformities
group Musculoskeletal Diseases Anatomical Abnormality 46 0.100 0
Cortical white matter abnormalities seen on MRI
phenotype Anatomical Abnormality 28 0.100 0
CUI: C4021524
Disease: Abnormality of adipose tissue
Abnormality of adipose tissue
phenotype Anatomical Abnormality 3 0.100 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology
phenotype Anatomical Abnormality 56 0.100 0
Abnormal brain FDG positron emission tomography
phenotype Anatomical Abnormality 11 0.100 0
Abnormal upper motor neuron morphology
phenotype Anatomical Abnormality 14 1 0.100 0
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 144 5 0.100 0
Neurofibrillary degeneration (morphologic abnormality)
phenotype Cell or Molecular Dysfunction 15 0.100 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease Congenital Abnormality 186 12 0.100 0
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.300 limited 0
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 1981 1062 0.500 0.963 82 3 2007 2018
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Virus Diseases Disease or Syndrome 3 18 0.800 1.000 27 13 1983 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 744 41 0.200 1.000 22 1 2007 2018
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
disease Mental Disorders; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 144 94 0.200 0.933 15 4 2013 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 104 51 0.100 0.923 13 1 2013 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 832 120 0.100 0.900 10 1 2011 2016
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 659 259 0.480 0.875 8 1 2013 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.070 0.857 7 1 2013 2016
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 115 55 0.320 1.000 4 1 2013 2017
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 187 62 0.510 1.000 3 2015 2017
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia
disease Disease or Syndrome 65 12 0.020 1.000 2 2013 2018