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: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
phenotype Pathologic Function 277 6 0.100 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger
phenotype Finding 21 0.100 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
phenotype Finding 75 0.100 0
CUI: C1848654
Disease: Broad ribs
Broad ribs
phenotype Finding 15 0.100 0
CUI: C1849073
Disease: Fused vertebrae
Fused vertebrae
phenotype Anatomical Abnormality 26 0.100 0
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion
disease Cardiovascular Diseases Disease or Syndrome 30 3 0.100 0
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency
disease Disease or Syndrome 29 6 0.100 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 157 0.100 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow
phenotype Finding 73 2 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1843108
Disease: Short palm
Short palm
phenotype Finding 89 1 0.100 0
CUI: C1842408
Disease: increased risk of pancreatic cancer
increased risk of pancreatic cancer
phenotype Finding 11 0.100 0
Iron-Refractory Iron Deficiency Anemia
disease Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 32 28 0.100 0
CUI: C1835763
Disease: Vertebral body fusion
Vertebral body fusion
phenotype Finding 26 0.100 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 403 20 0.100 0
CUI: C1836189
Disease: Radial deviation of finger
Radial deviation of finger
phenotype Finding 42 0.100 0
CUI: C1836195
Disease: Short toe
Short toe
phenotype Finding 38 0.100 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.100 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 95 2 0.100 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
phenotype Anatomical Abnormality 50 0.100 0
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas
disease Disease or Syndrome 8 0.100 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype Finding 84 0.100 0
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 9 137 0.200 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis
phenotype Finding 36 0.100 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis
phenotype Finding 16 0.100 0