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: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 11 0.300 None 1.000 1 2013 2013
Auditory Processing Disorder, Central
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 0.300 None 1.000 1 2013 2013
CUI: C0678356
Disease: alcohol effect
alcohol effect
phenotype Disease or Syndrome 13 0.010 None 1.000 1 2008 2008
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice
disease Anatomical Abnormality 14 0.100 None 0
CUI: C2363129
Disease: Benign Rolandic Epilepsy
Benign Rolandic Epilepsy
disease Nervous System Diseases Disease or Syndrome 15 2 0.520 None 1.000 3 2013 2018
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody
phenotype Finding 15 0.100 None 0
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 16 3 0.100 None 0
CUI: C0001816
Disease: Agnosia
Agnosia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 17 0.100 None 0
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 0.100 None 0
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia
phenotype Finding 17 8 0.100 None 0
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 18 0.300 None 1.000 1 2013 2013
CUI: C0027441
Disease: Nasopharyngitis
Nasopharyngitis
disease Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 19 0.010 None 1.000 1 2015 2015
CUI: C0392699
Disease: Dysesthesia
Dysesthesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 22 3 0.100 None 0
Generalized tonic-clonic seizures with focal onset
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 23 1 0.100 None 0
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties
phenotype Finding 23 3 0.100 None 0
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 25 0.100 None 0
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 30 9 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
Neuropsychiatric Systemic Lupus Erythematosus
disease Infections; Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 33 3 0.020 None 1.000 2 2017 2018
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy
phenotype Nervous System Diseases; Mental Disorders Finding 34 2 0.100 None 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity
phenotype Finding 41 2 0.100 None 0
CUI: C0026552
Disease: Morphine Dependence
Morphine Dependence
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 44 0.300 None 1.000 1 2003 2003
CUI: C0032051
Disease: Placental Insufficiency
Placental Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 45 0.200 None 1.000 1 2009 2009
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
disease Nervous System Diseases Disease or Syndrome 46 81 0.530 None 1.000 4 11 2012 2018
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes
disease Nervous System Diseases Disease or Syndrome 46 2 0.040 None 1.000 4 2013 2018