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 | Congenital Abnormality | 237 | 350 | 0.100 | None | 1.000 | 9 | 1 | 2011 | 2017 | ||||
|
phenotype | Congenital Abnormality | 6 | 7 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
disease | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | 17 | 18 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||
|
phenotype | Finding | 2 | 3 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 33 | 50 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 28 | 31 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 5 | 5 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 10 | 10 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 19 | 24 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 8 | 8 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
disease | Musculoskeletal Diseases | Anatomical Abnormality | 10 | 15 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||
|
phenotype | Congenital Abnormality | 6 | 7 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Pathologic Function | 32 | 37 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Pathologic Function | 31 | 40 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
disease | Congenital Abnormality | 21 | 23 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | 2 | 2 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||
|
phenotype | Finding | 8 | 8 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 8 | 8 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Anatomical Abnormality | 1 | 1 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Pathologic Function | 9 | 10 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Anatomical Abnormality | 1 | 1 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Finding | 2 | 2 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||
|
disease | Musculoskeletal Diseases | Anatomical Abnormality | 2 | 2 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||
|
phenotype | Anatomical Abnormality | 4 | 3 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 2 | 2 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 |