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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 234 | 4 | 0.300 | None | 1.000 | 1 | 2009 | 2009 | |||||
|
group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Congenital Abnormality | 55 | 3 | 0.300 | None | 1.000 | 1 | 2009 | 2009 | |||||
|
group | Pathological Conditions, Signs and Symptoms | Pathologic Function | 39 | 0.300 | None | 1.000 | 1 | 2009 | 2009 | ||||||
|
group | Musculoskeletal Diseases | Disease or Syndrome | 82 | 2 | 0.300 | None | 1.000 | 1 | 2009 | 2009 | |||||
|
disease | Musculoskeletal Diseases | Anatomical Abnormality | 41 | 3 | 0.100 | None | 0 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms | Finding | 194 | 33 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 41 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 2 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 45 | 6 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 139 | 4 | 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 | Musculoskeletal Diseases | Pathologic Function | 62 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 95 | 15 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 426 | 39 | 0.100 | None | 0 | |||||||||
|
disease | Musculoskeletal Diseases; Wounds and Injuries | Anatomical Abnormality | 128 | 16 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 159 | 25 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 133 | 13 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 429 | 29 | 0.100 | None | 0 | |||||||||
|
disease | Musculoskeletal Diseases | Anatomical Abnormality | 40 | 3 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 6 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 2 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 71 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 182 | 25 | 0.100 | None | 0 | |||||||||
|
disease | Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | Disease or Syndrome | 1 | 1 | 0.100 | None | 0 | 1 | |||||||
|
phenotype | Finding | 13 | 0.100 | None | 0 |