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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | Disease or Syndrome | 1 | 38 | 0.910 | definitive | 1.000 | 20 | 38 | 1998 | 2018 | ||||
|
disease | Disease or Syndrome | 1 | 38 | 0.700 | strong | 1.000 | 8 | 38 | 2005 | 2016 | |||||
|
disease | Disease or Syndrome | 1 | 43 | 0.700 | strong | 1.000 | 7 | 43 | 2011 | 2016 | |||||
|
phenotype | Musculoskeletal Diseases | Finding | 1 | 0.100 | None | 0 | |||||||||
|
disease | Disease or Syndrome | 1 | 2 | 0.100 | None | 0 | 2 | ||||||||
|
disease | Cardiovascular Diseases | Congenital Abnormality | 1 | 1 | 0.100 | None | 0 | 1 | |||||||
|
phenotype | Anatomical Abnormality | 1 | 1 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 2 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | Anatomical Abnormality | 2 | 1 | 0.100 | None | 0 | 1 | |||||||
|
phenotype | Finding | 2 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 2 | 0.100 | None | 0 | ||||||||||
|
disease | Cardiovascular Diseases | Congenital Abnormality | 3 | 1 | 0.010 | None | 1.000 | 1 | 2016 | 2016 | |||||
|
disease | Anatomical Abnormality | 4 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Cardiovascular Diseases | Disease or Syndrome | 5 | 0.300 | None | 1.000 | 1 | 2016 | 2016 | ||||||
|
disease | Disease or Syndrome | 8 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Disease or Syndrome | 9 | 0.010 | None | 1.000 | 1 | 2012 | 2012 | ||||||
|
disease | Anatomical Abnormality | 9 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Cardiovascular Diseases | Disease or Syndrome | 10 | 1 | 0.010 | None | 1.000 | 1 | 2017 | 2017 | |||||
|
phenotype | Finding | 11 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 12 | 4 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Anatomical Abnormality | 12 | 13 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 13 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 13 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 14 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 16 | 1 | 0.100 | None | 0 |