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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
phenotype | Finding | 3 | 0.100 | None | 0 | ||||||||||
|
disease | Finding | 3 | 2 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 5 | 6 | 0.100 | None | 0 | 2 | ||||||||
|
disease | Disease or Syndrome | 7 | 14 | 0.600 | None | 1.000 | 12 | 11 | 2003 | 2015 | |||||
|
phenotype | Finding | 7 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 7 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 7 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 8 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 9 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 10 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases | Disease or Syndrome | 11 | 3 | 0.010 | None | 1.000 | 1 | 2008 | 2008 | |||||
|
disease | Hemic and Lymphatic Diseases | Disease or Syndrome | 12 | 0.300 | None | 0 | |||||||||
|
disease | Hemic and Lymphatic Diseases | Disease or Syndrome | 13 | 0.300 | None | 1.000 | 1 | 2007 | 2007 | ||||||
|
disease | Musculoskeletal Diseases | Disease or Syndrome | 15 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Eye Diseases | Disease or Syndrome | 16 | 86 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 17 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 20 | 3 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 25 | 0.100 | None | 0 | ||||||||||
|
disease | Cardiovascular Diseases | Disease or Syndrome | 30 | 2 | 0.100 | None | 0 | ||||||||
|
phenotype | Digestive System Diseases; Nutritional and Metabolic Diseases | Finding | 37 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases | Pathologic Function | 41 | 2 | 0.100 | None | 0 | ||||||||
|
phenotype | Acquired Abnormality | 43 | 2 | 0.010 | None | 1.000 | 1 | 2012 | 2012 | ||||||
|
phenotype | Finding | 43 | 3 | 0.100 | None | 0 | |||||||||
|
disease | Disease or Syndrome | 49 | 13 | 1.000 | definitive | 0.972 | 71 | 10 | 2003 | 2019 | |||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | Finding | 49 | 2 | 0.100 | None | 0 |