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: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
phenotype Finding 93 3 0.100 None 0
CUI: C1843677
Disease: Large sella turcica
Large sella turcica
phenotype Finding 3 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 1
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline
phenotype Finding 71 17 0.100 None 0
CUI: C0155707
Disease: Trifascicular block
Trifascicular block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 23 0.100 None 0
CUI: C0162285
Disease: Edema of eyelid
Edema of eyelid
phenotype Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 22 1 0.100 None 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 171 12 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges
phenotype Finding 41 10 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 154 23 0.100 None 0
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae
phenotype Finding 17 0.100 None 0
CUI: C0037052
Disease: Sick Sinus Syndrome
Sick Sinus Syndrome
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 51 7 0.100 None 0
CUI: C0039070
Disease: Syncope
Syncope
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 119 45 0.100 None 0
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 50 7 0.100 None 0
CUI: C0040412
Disease: Fissured tongue
Fissured tongue
disease Stomatognathic Diseases Disease or Syndrome 36 1 0.100 None 0
CUI: C1848395
Disease: Large for gestational age
Large for gestational age
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 43 10 0.100 None 0
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion
phenotype Finding 16 4 0.100 None 0
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 48 22 0.100 None 0 1
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
CUI: C0085614
Disease: First degree atrioventricular block
First degree atrioventricular block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 26 0.100 None 0
CUI: C0085615
Disease: Right bundle branch block
Right bundle branch block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 39 0.100 None 0
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 226 8 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
phenotype Finding 85 3 0.100 None 0