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: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.310 strong 1.000 2 2018 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None < 0.001 1 2006 2006
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.010 None 1.000 1 2018 2018
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.310 None 1.000 1 2003 2003
CUI: C3711376
Disease: Isodicentric Chromosome 15 Syndrome
Isodicentric Chromosome 15 Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 39 0.300 None 1.000 1 2013 2013
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders Mental or Behavioral Dysfunction 185 34 0.020 None 1.000 2 1998 2001
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 135 0.020 None 1.000 2 1994 2001
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 49 45 0.010 None 1.000 1 2013 2013
CUI: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 11 58 0.010 None 1.000 1 2013 2013
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 0.020 None 0.500 2 1994 1994
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.330 None 1.000 6 1998 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.330 None 1.000 3 2001 2007
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.310 strong 1.000 2 2018 2019
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1
disease Mental Disorders Mental or Behavioral Dysfunction 161 34 0.020 None 1.000 2 1998 2001
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4
disease Mental Disorders Mental or Behavioral Dysfunction 160 34 0.020 None 1.000 2 1998 2001
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6
disease Mental Disorders Mental or Behavioral Dysfunction 160 34 0.020 None 1.000 2 1998 2001
CUI: C2700438
Disease: MAJOR AFFECTIVE DISORDER 7
MAJOR AFFECTIVE DISORDER 7
disease Mental Disorders Mental or Behavioral Dysfunction 127 8 0.020 None 1.000 2 1998 2001
CUI: C2700439
Disease: MAJOR AFFECTIVE DISORDER 8
MAJOR AFFECTIVE DISORDER 8
disease Mental Disorders Mental or Behavioral Dysfunction 126 8 0.020 None 1.000 2 1998 2001
CUI: C2700440
Disease: MAJOR AFFECTIVE DISORDER 9
MAJOR AFFECTIVE DISORDER 9
disease Mental Disorders Mental or Behavioral Dysfunction 126 8 0.020 None 1.000 2 1998 2001
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.010 None 1.000 1 2018 2018
CUI: C0030319
Disease: Panic Disorder
Panic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 175 101 0.010 None 1.000 1 2014 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.310 None 1.000 1 2001 2001
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 40 4 0.300 None 1.000 1 2016 2016
CUI: C0154409
Disease: Recurrent major depressive episodes
Recurrent major depressive episodes
disease Mental Disorders Mental or Behavioral Dysfunction 36 9 0.010 None 1.000 1 1997 1997
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2018 2018