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 DOMINANT 53
disease Mental or Behavioral Dysfunction 1 8 0.400 None 1.000 4 8 2015 2018
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63
disease Disease or Syndrome 1 1 0.300 None 1.000 1 1 2018 2018
Congenital digestive system anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 2 5 0.100 None 1.000 1 1 2017 2017
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior
phenotype Behavior and Behavior Mechanisms Pathologic Function 3 13 0.100 None 1.000 1 8 2017 2017
CUI: C4075720
Disease: Severe alcohol dependence
Severe alcohol dependence
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2013 2013
CUI: C0236780
Disease: Mixed bipolar I disorder
Mixed bipolar I disorder
disease Mental Disorders Mental or Behavioral Dysfunction 7 0.200 None 0
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 24 0.300 None 1.000 1 2013 2013
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
phenotype Anatomical Abnormality 31 24 0.100 None 1.000 1 4 2017 2017
CUI: C0149654
Disease: Conduct Disorder
Conduct Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 34 18 0.010 None 1.000 1 1 2011 2011
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 42 3 0.100 None 1.000 1 2 2017 2017
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 42 30 0.010 None 1.000 1 2014 2014
CUI: C2718017
Disease: TDP-43 Proteinopathies
TDP-43 Proteinopathies
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 44 1 0.010 None 1.000 1 2015 2015
CUI: C0262361
Disease: Growth abnormality
Growth abnormality
phenotype Finding 49 5 0.100 None 1.000 1 1 2017 2017
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 56 29 0.100 None 1.000 1 3 2017 2017
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype Finding 64 116 0.100 None 1.000 1 2 2017 2017
CUI: C3496069
Disease: cocaine use
cocaine use
disease Mental or Behavioral Dysfunction 67 8 0.010 None 1.000 1 1 2014 2014
CUI: C0024713
Disease: Manic Disorder
Manic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 76 0.200 None 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk
phenotype Finding 77 0.100 None 0
CUI: C0458247
Disease: Allodynia
Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 84 0.300 None 1.000 1 2010 2010
CUI: C0751211
Disease: Hyperalgesia, Primary
Hyperalgesia, Primary
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 1 2010 2010
CUI: C0751212
Disease: Hyperalgesia, Secondary
Hyperalgesia, Secondary
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 88 0.300 None 1.000 1 2010 2010
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 135 0.010 None 1.000 1 2017 2017
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0
CUI: C0751213
Disease: Tactile Allodynia
Tactile Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 114 0.300 None 1.000 1 2010 2010
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar
disease Mental Disorders Mental or Behavioral Dysfunction 116 2 0.200 None 0