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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 188 | 43 | 0.300 | limited | 0 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | Finding | 43 | 2 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 25 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms | Pathologic Function | 101 | 1 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 11 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 407 | 35 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | 539 | 19 | 0.100 | None | 0 | ||||||||
|
disease | Anatomical Abnormality | 25 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 8 | 0.100 | None | 0 | ||||||||||
|
phenotype | Eye Diseases | Finding | 87 | 3 | 0.100 | None | 0 | ||||||||
|
disease | Anatomical Abnormality | 12 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Eye Diseases | Acquired Abnormality | 878 | 124 | 0.100 | None | 0 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | Disease or Syndrome | 94 | 4 | 0.100 | None | 0 | ||||||||
|
disease | Anatomical Abnormality | 5 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 5 | 0.100 | None | 0 | ||||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | Finding | 422 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 11 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 39 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Eye Diseases | Disease or Syndrome | 269 | 83 | 0.100 | None | 0 | ||||||||
|
disease | Endocrine System Diseases | Disease or Syndrome | 305 | 24 | 0.100 | None | 0 | ||||||||
|
disease | Nutritional and Metabolic Diseases | Disease or Syndrome | 620 | 64 | 0.100 | None | 0 | ||||||||
|
phenotype | Nervous System Diseases | Finding | 55 | 5 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 779 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 215 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 16 | 2 | 0.100 | None | 0 |