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: C4085597
Disease: CHOPS SYNDROME
CHOPS SYNDROME
disease Disease or Syndrome 1 3 0.710 1.000 1 3 2015 2015
CUI: C0028754
Disease: Obesity
Obesity
disease Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1960 811 0.410 1.000 1 2015 2015
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 0.400 strong 1 2015 2015
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 276 31 0.310 1.000 1 2015 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 16 2 0.300 1 2015 2015
CUI: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 392 18 0.300 1 2015 2015
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental
group Musculoskeletal Diseases Disease or Syndrome 54 1 0.300 1 2015 2015
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
group Mental Disorders Mental or Behavioral Dysfunction 236 29 0.300 1 2015 2015
CUI: C0018273
Disease: Growth Disorders
Growth Disorders
group Pathological Conditions, Signs and Symptoms Pathologic Function 38 0.300 1 2015 2015
CUI: C0282631
Disease: Facies
Facies
group Pathological Conditions, Signs and Symptoms Organism Attribute 8 0.300 1 2015 2015
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease
group Disease or Syndrome 58 7 0.100 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow
phenotype Finding 73 2 0.100 0
CUI: C1848490
Disease: Protruding eyes
Protruding eyes
phenotype Finding 136 0.100 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Finding 151 4 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1837760
Disease: Prominent eyes
Prominent eyes
phenotype Finding 136 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
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 0.100 0
CUI: C0426414
Disease: Small nose
Small nose
phenotype Finding 175 0.100 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes
phenotype Finding 56 4 0.100 0
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 139 4 0.100 0
CUI: C4073184
Disease: Thick hair
Thick hair
phenotype Finding 9 0.100 0
Thickened facial skin with coarse facial features
phenotype Finding 150 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0