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.
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 187 23 0.100 None 0
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 154 14 0.100 None 0
CUI: C0342208
Disease: Multinodular goiter
Multinodular goiter
disease Neoplasms; Endocrine System Diseases Disease or Syndrome 51 6 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
disease Digestive System Diseases Disease or Syndrome 122 34 0.100 None 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype Finding 64 4 0.100 None 0
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 94 16 0.100 None 0
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia
disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 196 76 0.100 None 0
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 21 2 0.100 None 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.100 None 0 1
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media
disease Otorhinolaryngologic Diseases Disease or Syndrome 163 6 0.100 None 0
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C0042798
Disease: Low Vision
Low Vision
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 157 51 0.100 None 0 1
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
Decreased HDL cholesterol concentration
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding 12 2 0.100 None 0
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism
disease Endocrine System Diseases Disease or Syndrome 50 1 0.100 None 0
CUI: C0156404
Disease: Irregular Menstruation
Irregular Menstruation
phenotype Pathological Conditions, Signs and Symptoms Finding 9 3 0.100 None 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 57 1 0.100 None 0
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality 17 1 0.100 None 0
CUI: C0239479
Disease: Round face
Round face
phenotype Finding 88 3 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0