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: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 5 1.000 0.979 547 3 1991 2018
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 46 0.800 0.978 139 2004 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.700 1.000 37 1993 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.600 strong 0.978 141 1 1992 2016
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 0.540 1.000 12 2000 2017
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 174 68 0.400 0.923 67 1994 2018
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
group Mental Disorders Mental or Behavioral Dysfunction 236 29 0.400 0.909 12 2000 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.400 1.000 10 1996 2018
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 395 79 0.390 0.889 10 2002 2018
Hypergonadotropic Ovarian Failure, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Disease or Syndrome 7 2 0.380 1.000 9 2003 2016
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 516 378 0.340 0.500 4 2009 2016
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 512 210 0.340 0.500 4 2009 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 606 30 0.330 1.000 4 2008 2015
Mixed anxiety and depressive disorder
disease Mental or Behavioral Dysfunction 43 11 0.310 1.000 2 2010 2014
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
phenotype Behavior and Behavior Mechanisms Sign or Symptom 146 62 0.310 1.000 1 2008 2008
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.300 1.000 19 2007 2018
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 2 0.300 8 2004 2017
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.300 2 2004 2010
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 2 2007 2011
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.300 2 2004 2010
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 137 0.300 2 2004 2010
CUI: C0376280
Disease: Anxiety States, Neurotic
Anxiety States, Neurotic
disease Mental Disorders Mental or Behavioral Dysfunction 39 0.300 1 2017 2017
CUI: C2678248
Disease: Mood instability
Mood instability
phenotype Finding 2 0.300 1.000 1 2007 2007
CUI: C1279420
Disease: Anxiety neurosis (finding)
Anxiety neurosis (finding)
disease Mental Disorders Mental or Behavioral Dysfunction 52 1 0.300 1 2017 2017
CUI: C0949331
Disease: Gonadal Agenesis
Gonadal Agenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 3 0.300 1 2011 2011