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: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C0039070
Disease: Syncope
Syncope
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 39 20 0.100 0
CUI: C4280495
Disease: Concave bridge of nose
Concave bridge of nose
phenotype Finding 274 0.100 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
phenotype Finding 124 4 0.100 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder)
disease Congenital Abnormality 79 2 0.100 0
CUI: C4280612
Disease: Decreased width of tooth
Decreased width of tooth
phenotype Finding 76 0.100 0
CUI: C0011071
Disease: Sudden death
Sudden death
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 21 1 0.100 0
Ventricular Fibrillation, Paroxysmal Familial, 1
disease Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 2 0.100 0 1
CUI: C4018858
Disease: J wave
J wave
phenotype Finding 1 0.100 0
CUI: C4280611
Disease: Decreased size of teeth
Decreased size of teeth
phenotype Finding 81 0.100 0
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype Finding 67 1 0.100 0
CUI: C0239479
Disease: Round face
Round face
phenotype Finding 65 0.100 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 0 1
CUI: C3550546
Disease: Depressed nasal root/bridge
Depressed nasal root/bridge
phenotype Finding 274 0.100 0
CUI: C1856468
Disease: Round, full face
Round, full face
phenotype Finding 65 1 0.100 0
CUI: C0151879
Disease: Shortened QT interval
Shortened QT interval
phenotype Finding 7 0.100 0
CUI: C1861921
Disease: Cutaneous syndactyly
Cutaneous syndactyly
phenotype Finding 3 0.100 0
CUI: C0151878
Disease: Prolonged QT interval
Prolonged QT interval
phenotype Finding 20 1 0.100 0
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
disease Disease or Syndrome 59 17 0.100 0
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 21 7 1.000 0.944 23 6 1993 2016
CUI: C2678478
Disease: Brugada Syndrome 3
Brugada Syndrome 3
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 1 0.600 2 1 1993 2007
Malignant hyperpyrexia due to anesthesia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 48 104 0.010 1.000 1 1996 1996