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, X-LINKED 94 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 7 0.700 strong 1.000 1 7 2007 2007
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.320 None 1.000 5 1999 2010
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.320 None 1.000 4 2010 2017
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.320 None 1.000 3 2010 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.320 None 1.000 2 3 2008 2013
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 1 0.300 limited 1.000 6 1999 2014
CUI: C0033953
Disease: Psychosexual Disorders
Psychosexual Disorders
group 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
Amyotrophic Lateral Sclerosis, Sporadic
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 173 90 0.300 None 1.000 1 2004 2004
CUI: C0016722
Disease: Frigidity
Frigidity
disease Mental Disorders Mental or Behavioral Dysfunction 6 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: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 164 139 0.300 None 1.000 1 2004 2004
Amyotrophic Lateral Sclerosis, Familial
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 130 68 0.300 None 1.000 1 2004 2004
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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.190 None 1.000 9 1999 2017
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.100 None 1.000 1 1 2017 2017
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.100 None 1.000 1 1 2017 2017
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease Mental Disorders Disease or Syndrome 118 59 0.100 None 1.000 1 1 2017 2017
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay
disease Disease or Syndrome 58 20 0.100 None 1.000 1 1 2017 2017
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C4022563
Disease: Abnormality of muscle size
Abnormality of muscle size
phenotype Finding 1 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability
disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum
disease Anatomical Abnormality 32 4 0.100 None 0