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.
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
disease Disease or Syndrome 1 3 0.600 3 3 1993 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.350 0.500 7 2006 2016
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis
disease Mental or Behavioral Dysfunction 219 60 0.310 1.000 1 2008 2008
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
group Mental Disorders Mental or Behavioral Dysfunction 316 113 0.310 1.000 1 2008 2008
CUI: C0236733
Disease: Amphetamine-Related Disorders
Amphetamine-Related Disorders
group Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 75 0.300 1 2008 2008
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 0.300 strong 2 2017 2017
CUI: C0236804
Disease: Amphetamine Addiction
Amphetamine Addiction
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 76 1 0.300 1 2008 2008
CUI: C0236807
Disease: Amphetamine Abuse
Amphetamine Abuse
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 75 0.300 1 2008 2008
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 21 126 0.200 1 2003 2003
CUI: C4280495
Disease: Concave bridge of nose
Concave bridge of nose
phenotype Finding 274 0.100 0
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response
phenotype Finding 11 1 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0409354
Disease: Flexion contracture of hip
Flexion contracture of hip
phenotype Acquired Abnormality 21 0.100 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
phenotype Acquired Abnormality 51 4 0.100 0
CUI: C1833142
Disease: contracture of elbow
contracture of elbow
phenotype Acquired Abnormality 47 0.100 0
Exaggerated acoustic startle response
phenotype Finding 10 0.100 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 282 4 0.100 0
CUI: C4280666
Disease: Triangular head shape
Triangular head shape
disease Congenital Abnormality 19 0.100 0
CUI: C4280665
Disease: Wedge shaped head
Wedge shaped head
disease Congenital Abnormality 19 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 203 5 0.100 0
CUI: C3494422
Disease: Retrognathia
Retrognathia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 118 3 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C1848918
Disease: Increased startle response
Increased startle response
phenotype Finding 10 0.100 0