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: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype Finding 45 0.100 None 0
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 29 1 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 56 15 0.100 None 0
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density
phenotype Finding 76 2 0.100 None 0
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection
disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 237 21 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE
phenotype Finding 68 0.100 None 0
CUI: C0266387
Disease: Bicornuate uterus
Bicornuate uterus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 44 0.100 None 0
Congenital ear anomaly NOS (disorder)
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality 137 5 0.100 None 0
Pyridoxine-responsive sideroblastic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 24 0.100 None 0
CUI: C0221358
Disease: Long narrow head
Long narrow head
disease Congenital Abnormality 154 26 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 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: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Anatomical Abnormality 80 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve
disease Anatomical Abnormality 50 2 0.100 None 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 129 21 0.100 None 0
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies
disease Nervous System Diseases Disease or Syndrome 81 1 0.100 None 0