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 Abnormality | 38 | 10 | 0.110 | None | 1.000 | 1 | 2018 | 2018 | ||||||
|
phenotype | Neoplastic Process | 6626 | 169 | 0.010 | None | 1.000 | 1 | 2018 | 2018 | ||||||
|
phenotype | Neoplastic Process | 200 | 0.010 | None | 1.000 | 1 | 2012 | 2012 | |||||||
|
disease | Neoplastic Process | 3669 | 502 | 0.010 | None | 1.000 | 1 | 2018 | 2018 | ||||||
|
phenotype | Finding | 3 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 2 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 14 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 85 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 24 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 93 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 20 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 3 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 2 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 5 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 25 | 8 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 1 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 2 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Anatomical Abnormality | 86 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 22 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 1 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 97 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 186 | 65 | 0.010 | None | 1.000 | 1 | 2017 | 2017 | |||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Disease or Syndrome | 4 | 0.020 | None | < 0.001 | 2 | 1995 | 1998 | ||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Disease or Syndrome | 100 | 54 | 0.010 | None | 1.000 | 1 | 2006 | 2006 | |||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | 12 | 16 | 0.950 | None | 1.000 | 17 | 16 | 1994 | 2019 |