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: C0000921
Disease: Accidental Falls
Accidental Falls
phenotype Injury or Poisoning 22 0.100 None 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0020578
Disease: Hyperventilation
Hyperventilation
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 31 2 0.100 None 0
CUI: C0027066
Disease: Myoclonus
Myoclonus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0
CUI: C0030232
Disease: Pallor
Pallor
phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 151 14 0.100 None 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.100 None 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.100 None 0
CUI: C0679136
Disease: Low self-esteem
Low self-esteem
phenotype Behavior and Behavior Mechanisms Finding 10 0.100 None 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.100 None 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 3 0.100 None 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology
phenotype Finding 21 2 0.100 None 0
CUI: C1854686
Disease: Uncontrolled eye movements
Uncontrolled eye movements
phenotype Finding 7 0.100 None 0
CUI: C1855568
Disease: Jerky head movements
Jerky head movements
phenotype Finding 10 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior
phenotype Behavior and Behavior Mechanisms Finding 19 0.100 None 0
CUI: C4023479
Disease: EEG with focal sharp slow waves
EEG with focal sharp slow waves
phenotype Finding 6 0.100 None 0
EEG with spike-wave complexes (2.5-3.5 Hz)
phenotype Finding 6 0.100 None 0
Impaired visuospatial constructive cognition
phenotype Finding 15 0.100 None 0
CUI: C4477055
Disease: Limb myoclonus
Limb myoclonus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 1 0.100 None 0
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 135 0.400 None 1.000 23 1991 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.400 None 0.867 15 3 1998 2018
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 89 17 0.500 None 0.917 12 3 1999 2019
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 185 8 0.100 None 1.000 12 1991 2016