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 | Acquired Abnormality | 15 | 4 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 74 | 2 | 0.100 | None | 0 | ||||||||
|
disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 235 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms | Finding | 109 | 13 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 10 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 1 | 2 | 0.100 | None | 0 | 2 | ||||||||
|
disease | Acquired Abnormality | 27 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 80 | 16 | 0.100 | None | 0 | 5 | |||||||
|
phenotype | Congenital Abnormality | 79 | 8 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 111 | 16 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 182 | 12 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 159 | 25 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 87 | 6 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 55 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 117 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 71 | 13 | 0.100 | None | 0 | |||||||||
|
phenotype | Eye Diseases | Finding | 7 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 25 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Disease or Syndrome | 321 | 67 | 0.100 | None | 0 | |||||||||
|
disease | Congenital Abnormality | 417 | 30 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 168 | 7 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 391 | 49 | 0.100 | None | 0 | |||||||||
|
phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Finding | 134 | 14 | 0.100 | None | 0 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | Finding | 171 | 54 | 0.100 | None | 0 | ||||||||
|
phenotype | Nervous System Diseases | Finding | 64 | 2 | 0.100 | None | 0 |