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: C0749211
Disease: syphilis infection
syphilis infection
disease Disease or Syndrome 1 0.030 None 1.000 3 2018 2019
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
disease Disease or Syndrome 1 5 0.700 strong 1.000 2 5 2017 2017
CUI: C0086649
Disease: MPS III C
MPS III C
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 6 38 0.010 None 1.000 1 2015 2015
CUI: C0149985
Disease: Syphilis, secondary
Syphilis, secondary
disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 7 0.020 None 1.000 2 2018 2018
CUI: C0566888
Disease: Narrow sacrosciatic notch
Narrow sacrosciatic notch
phenotype Finding 10 0.100 None 0
Hypoplasia of the capital femoral epiphysis
phenotype Finding 11 0.100 None 0
Delayed ossification of carpal bones
phenotype Finding 12 0.100 None 0
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 25 69 0.010 None 1.000 1 2010 2010
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 5 0.110 None 1.000 1 2017 2017
Congenital dislocation of radial head
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 27 2 0.100 None 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 27 0.100 None 0
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Congenital Abnormality 32 51 0.020 None 0.500 2 1998 2000
CUI: C1442903
Disease: Exostoses
Exostoses
phenotype Musculoskeletal Diseases Disease or Syndrome 37 0.010 None 1.000 1 2008 2008
CUI: C2882221
Disease: Acute pulmonary embolism
Acute pulmonary embolism
disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 42 0.010 None 1.000 1 2017 2017
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 48 7 0.010 None 1.000 1 2010 2010
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
disease Congenital Abnormality 57 6 0.100 None 0 1
CUI: C0020452
Disease: Hyperemia
Hyperemia
disease Cardiovascular Diseases Disease or Syndrome 64 3 0.010 None 1.000 1 2013 2013
CUI: C0239137
Disease: Coxa valga
Coxa valga
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 68 5 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose
phenotype Finding 70 7 0.100 None 0
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis
disease Musculoskeletal Diseases Disease or Syndrome 74 5 0.010 None 1.000 1 1998 1998
CUI: C0036916
Disease: Sexually Transmitted Diseases
Sexually Transmitted Diseases
group Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 75 3 0.020 None 1.000 2 2017 2017
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood
phenotype Finding 75 5 0.100 None 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 78 14 0.100 None 0
CUI: C0039128
Disease: Syphilis
Syphilis
disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 80 3 0.020 None 1.000 2 2017 2018
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.100 None 0