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: C0454582
Disease: Semantic impairment
Semantic impairment
disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0002624
Disease: Retrograde amnesia
Retrograde amnesia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2020 2020
CUI: C0234507
Disease: Anosognosia
Anosognosia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C3494361
Disease: Prodromal Stage
Prodromal Stage
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.010 None 1.000 1 2017 2017
Ovalocytosis, Malaysian-Melanesian-Filipino Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 9 5 0.010 None 1.000 1 2017 2017
CUI: C3805054
Disease: Prodromal Alzheimer's disease
Prodromal Alzheimer's disease
disease Mental or Behavioral Dysfunction 13 2 0.010 None 1.000 1 2018 2018
CUI: C3494623
Disease: Mild dementia
Mild dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 16 0.060 None 1.000 6 2011 2020
CUI: C0001726
Disease: Affective Symptoms
Affective Symptoms
phenotype Behavior and Behavior Mechanisms Sign or Symptom 23 10 0.010 None 1.000 1 2019 2019
CUI: C2748208
Disease: Executive dysfunction
Executive dysfunction
disease Mental or Behavioral Dysfunction 33 3 0.010 None 1.000 1 2019 2019
Dementia due to Alzheimer's disease (disorder)
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 35 1 0.010 None 1.000 1 2017 2017
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2014 2014
CUI: C0027341
Disease: Nail-Patella Syndrome
Nail-Patella Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 38 18 0.020 None 1.000 2 2017 2020
CUI: C1855672
Disease: Immotile cilia
Immotile cilia
phenotype Finding 41 0.100 None 0
Impaired nasal mucociliary clearance
phenotype Finding 41 0.100 None 0
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 43 67 0.400 None 1.000 1 3 2014 2014
CUI: C0004941
Disease: Behavioral Symptoms
Behavioral Symptoms
group Behavior and Behavior Mechanisms Sign or Symptom 45 9 0.010 None 1.000 1 2018 2018
CUI: C0018520
Disease: Halitosis
Halitosis
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 48 0.100 None 0
CUI: C0032987
Disease: Ectopic Pregnancy
Ectopic Pregnancy
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 48 0.100 None 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 59 402 0.100 None 0 1
HIV-associated neurocognitive disorder
disease Infections; Immune System Diseases Disease or Syndrome 61 5 0.010 None 1.000 1 2019 2019
CUI: C0004144
Disease: Atelectasis
Atelectasis
phenotype Respiratory Tract Diseases Pathologic Function 62 2 0.100 None 0
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 22 0.010 None 1.000 1 2013 2013
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome 67 3 0.310 None 1.000 1 2014 2014
Behavioral and psychological symptoms of dementia
phenotype Sign or Symptom 72 9 0.020 None 1.000 2 2017 2018
CUI: C0525041
Disease: Neurobehavioral Manifestations
Neurobehavioral Manifestations
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 77 3 0.010 None 1.000 1 2004 2004