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.
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 1 0.600 strong 1.000 1 1 2007 2007
CUI: C0016722
Disease: Frigidity
Frigidity
disease Mental Disorders Mental or Behavioral Dysfunction 6 0.300 None 1.000 1 2009 2009
CUI: C0029261
Disease: Orgasmic Disorder
Orgasmic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 6 0.300 None 1.000 1 2009 2009
CUI: C0033953
Disease: Psychosexual Disorders
Psychosexual Disorders
group Mental Disorders Mental or Behavioral Dysfunction 6 0.300 None 1.000 1 2009 2009
CUI: C0020594
Disease: Hypoactive Sexual Desire Disorder
Hypoactive Sexual Desire Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2009 2009
CUI: C0036902
Disease: Sexual Arousal Disorder
Sexual Arousal Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2009 2009
CUI: C0036868
Disease: Sex Chromosome Aberrations
Sex Chromosome Aberrations
group Pathological Conditions, Signs and Symptoms Disease or Syndrome; Congenital Abnormality 8 0.010 None 1.000 1 2018 2018
CUI: C0443306
Disease: Spastic
Spastic
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Mental or Behavioral Dysfunction 13 0.010 None 1.000 1 1993 1993
CUI: C0155880
Disease: Intrinsic asthma
Intrinsic asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 29 5 0.010 None 1.000 1 1 2014 2014
CUI: C0549622
Disease: Sexual Dysfunction
Sexual Dysfunction
group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 36 12 0.010 None 1.000 1 2012 2012
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia
phenotype Finding 41 0.100 None 0
CUI: C0564567
Disease: Impulsive character (finding)
Impulsive character (finding)
phenotype Mental or Behavioral Dysfunction 52 19 0.010 None 1.000 1 2019 2019
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges
phenotype Finding 52 9 0.100 None 0
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
disease Nervous System Diseases Disease or Syndrome 67 37 0.010 None 1.000 1 2014 2014
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease Nervous System Diseases Disease or Syndrome 75 9 0.100 None 0
CUI: C0024713
Disease: Manic Disorder
Manic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 76 0.300 None 1.000 1 2008 2008
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span
phenotype Behavior and Behavior Mechanisms Finding 77 2 0.100 None 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 2 0.100 None 0
CUI: C0438696
Disease: Suicidal
Suicidal
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 93 29 0.020 None 1.000 2 2007 2009
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
disease Nervous System Diseases Disease or Syndrome 93 36 0.010 None < 0.001 1 1995 1995
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma
disease Neoplasms Neoplastic Process 95 3 0.300 None 1.000 1 2019 2019
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 111 5 0.010 None 1.000 1 2017 2017
Organic Mental Disorders, Substance-Induced
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 0.300 None 1.000 1 2010 2010
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse
phenotype Chemically-Induced Disorders; Mental Disorders Finding 115 0.300 None 1.000 1 2010 2010
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar
disease Mental Disorders Mental or Behavioral Dysfunction 116 2 0.300 None 1.000 1 2008 2008