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: C0349198
Disease: Acute transient psychotic disorder
Acute transient psychotic disorder
disease Pathological Conditions, Signs and Symptoms; Mental Disorders Mental or Behavioral Dysfunction 4 9 0.100 None 1.000 1 1 2012 2012
Charcot-Marie-Tooth disease, Type 2A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 3 0.010 None 1.000 1 2011 2011
CUI: C0234509
Disease: Finger Agnosia
Finger Agnosia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 7 0.100 None 0
Deposits immunoreactive to beta-amyloid protein
phenotype Finding 8 0.100 None 0
CUI: C4275079
Disease: Posterior cortical atrophy syndrome
Posterior cortical atrophy syndrome
disease Disease or Syndrome 12 8 0.100 None 1.000 1 1 2016 2016
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior
phenotype Behavior and Behavior Mechanisms Finding 19 0.100 None 0
CUI: C2242712
Disease: Hyper LDL cholesterolaemia
Hyper LDL cholesterolaemia
disease Disease or Syndrome 20 19 0.010 None 1.000 1 1 2015 2015
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 20 4 0.100 None 0
Primary Progressive Nonfluent Aphasia
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 21 13 0.010 None 1.000 1 2017 2017
Neurofibrillary degeneration (morphologic abnormality)
phenotype Cell or Molecular Dysfunction 21 0.100 None 0
CUI: C0234410
Disease: Physiologic disinhibition
Physiologic disinhibition
phenotype Organ or Tissue Function 23 0.100 None 0
CUI: C0598784
Disease: Dyslipoproteinemias
Dyslipoproteinemias
phenotype Nutritional and Metabolic Diseases Pathologic Function 24 0.300 None 1.000 1 2018 2018
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 25 35 0.100 None 1.000 1 1 2013 2013
CUI: C0523744
Disease: Lipids measurement
Lipids measurement
group Laboratory Procedure 27 53 0.100 None 1.000 1 1 2013 2013
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement
phenotype Laboratory Procedure 27 52 0.100 None 1.000 1 3 2009 2009
Behavioral variant of frontotemporal dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 35 10 0.010 None 1.000 1 2 2012 2012
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement
phenotype Laboratory Procedure 39 568 0.100 None 1.000 1 1 2011 2011
CUI: C1285654
Disease: Memory performance
Memory performance
phenotype Mental Process 40 71 0.100 None 1.000 1 1 2017 2017
CUI: C0234144
Disease: Dysgraphia
Dysgraphia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 43 2 0.100 None 0
CUI: C0023980
Disease: Longevity
Longevity
phenotype Temporal Concept 48 74 0.100 None 1.000 2 1 2011 2012
CUI: C1392786
Disease: Cognitive changes
Cognitive changes
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 50 15 0.020 None 0.500 2 2011 2019
Primary Progressive Aphasia (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 51 11 0.010 None 1.000 1 2 2012 2012
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy
disease Disease or Syndrome 56 67 0.010 None < 0.001 1 1 2013 2013
CUI: C0424296
Disease: Social disinhibition
Social disinhibition
disease Mental Disorders Mental or Behavioral Dysfunction 56 5 0.100 None 0
CUI: C0007273
Disease: Carotid Artery Diseases
Carotid Artery Diseases
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 69 6 0.010 None 1.000 1 1 2009 2009