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 | 1127 | 292 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 49 | 0.100 | None | 0 | |||||||||
|
disease | Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | Disease or Syndrome | 615 | 42 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 9 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 4 | 2 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 426 | 39 | 0.100 | None | 0 | |||||||||
|
disease | Congenital Abnormality | 32 | 16 | 0.100 | None | 0 | 8 | ||||||||
|
disease | Anatomical Abnormality | 69 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 110 | 13 | 0.100 | None | 0 | |||||||||
|
phenotype | Musculoskeletal Diseases | Finding | 23 | 1 | 0.100 | None | 0 | 1 | |||||||
|
phenotype | Finding | 129 | 21 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 43 | 3 | 0.100 | None | 0 | 2 | ||||||||
|
phenotype | Finding | 429 | 29 | 0.100 | None | 0 | 2 | ||||||||
|
phenotype | Pathologic Function | 41 | 56 | 0.100 | None | 0 | 2 | ||||||||
|
phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | Finding | 86 | 6 | 0.300 | None | 0 | ||||||||
|
disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 85 | 13 | 0.100 | None | 0 | ||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 186 | 65 | 0.100 | None | 0 | 2 | |||||||
|
phenotype | Finding | 87 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 51 | 8 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 112 | 18 | 0.100 | None | 0 | 3 | ||||||||
|
phenotype | Finding | 14 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 92 | 11 | 0.100 | None | 0 | ||||||||
|
disease | Musculoskeletal Diseases; Respiratory Tract Diseases | Congenital Abnormality | 5 | 0.200 | None | 0 | |||||||||
|
phenotype | Finding | 27 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 116 | 0.100 | None | 0 |