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 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | Finding | 86 | 6 | 0.400 | None | 0 | ||||||||
|
phenotype | Finding | 3 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 2 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 186 | 65 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 17 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 51 | 8 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 112 | 18 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 60 | 27 | 0.100 | None | 0 | |||||||||
|
disease | Musculoskeletal Diseases | Congenital Abnormality | 49 | 3 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 12 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 1127 | 292 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 22 | 3 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 25 | 0.100 | None | 0 | ||||||||||
|
phenotype | Congenital Abnormality | 3 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 66 | 7 | 0.100 | None | 0 | |||||||||
|
disease | Musculoskeletal Diseases | Congenital Abnormality | 24 | 0.100 | None | 0 | |||||||||
|
phenotype | Skin and Connective Tissue Diseases | Finding | 60 | 5 | 0.100 | None | 0 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | Finding | 49 | 2 | 0.100 | None | 0 | ||||||||
|
phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 50 | 0.100 | None | 0 | |||||||||
|
disease | Congenital Abnormality | 284 | 39 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 295 | 14 | 0.100 | None | 0 | |||||||||
|
phenotype | Musculoskeletal Diseases | Finding | 60 | 6 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 85 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 12 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 31 | 0.100 | None | 0 |