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 Abnormality | 2 | 0.200 | None | 1.000 | 3 | 2004 | 2011 | |||||||
|
disease | Disease or Syndrome | 3 | 0.030 | None | 0.667 | 3 | 2011 | 2013 | |||||||
|
disease | Congenital Abnormality | 1 | 2 | 0.600 | limited | 1.000 | 2 | 2 | 2001 | 2011 | |||||
|
phenotype | Diagnostic Procedure | 88 | 252 | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | |||||
|
phenotype | Finding | 88 | 252 | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | |||||
|
phenotype | Clinical Attribute | 1014 | 2689 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
disease | Disease or Syndrome | 695 | 94 | 0.010 | None | 1.000 | 1 | 2012 | 2012 | ||||||
|
phenotype | Finding | 123 | 13 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 89 | 11 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 10 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 6 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 12 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 34 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 41 | 10 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 429 | 29 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 182 | 25 | 0.100 | None | 0 | |||||||||
|
phenotype | Disease or Syndrome | 6 | 0.100 | None | 0 | ||||||||||
|
phenotype | Anatomical Abnormality | 1 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 15 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Anatomical Abnormality | 1 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 27 | 0.100 | None | 0 | ||||||||||
|
group | Cardiovascular Diseases | Disease or Syndrome | 1756 | 711 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||
|
group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | Anatomical Abnormality | 112 | 6 | 0.010 | None | 1.000 | 1 | 2011 | 2011 | |||||
|
phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | Finding | 28 | 1 | 0.100 | None | 0 | ||||||||
|
group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Congenital Abnormality | 55 | 3 | 0.300 | None | 1.000 | 1 | 2013 | 2013 |