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.
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: 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: 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
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: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 252 110 0.400 1.000 13 3 2013 2017
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 361 102 0.380 1.000 10 4 2003 2017
CUI: C0497327
Disease: Dementia
Dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 435 107 0.380 1.000 8 4 2008 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: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 84 2 0.300 2 2015 2017
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 84 2 0.300 2 2015 2017
CUI: C0338630
Disease: Senile Paranoid Dementia
Senile Paranoid Dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 8 0.300 1 2010 2010
CUI: C0751071
Disease: Familial Dementia
Familial Dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 16 4 0.300 1 2010 2010
Behavioral variant of frontotemporal dementia
disease Disease or Syndrome 23 7 0.300 0
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia
disease Mental Disorders; Nervous System Diseases; Nutritional and Metabolic Diseases Mental or Behavioral Dysfunction 13 1 0.300 0
Primary Progressive Nonfluent Aphasia
disease Mental Disorders; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 10 4 0.300 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: 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: C0520716
Disease: Pallidopontonigral degeneration
Pallidopontonigral degeneration
disease Mental Disorders; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 4 12 0.200 1 2017 2017
CUI: C0005937
Disease: Bone Cysts
Bone Cysts
phenotype Musculoskeletal Diseases; Neoplasms Anatomical Abnormality 16 3 0.140 1.000 4 3 2003 2010
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.110 1.000 1 2015 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 213 64 0.110 1.000 1 2015 2015
CUI: C0003635
Disease: Apraxias
Apraxias
group Behavior and Behavior Mechanisms; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 43 1 0.110 1.000 1 1 2015 2015
CUI: C0240735
Disease: Personality change
Personality change
phenotype Sign or Symptom 25 4 0.110 1.000 1 1 2015 2015
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