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 | Disease or Syndrome | 3 | 5 | 0.700 | None | 1.000 | 6 | 4 | 2011 | 2019 | |||||
|
group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 234 | 4 | 0.300 | None | 1.000 | 1 | 2006 | 2006 | |||||
|
disease | Disease or Syndrome | 59 | 442 | 0.300 | limited | 0 | |||||||||
|
disease | Cardiovascular Diseases | Congenital Abnormality | 154 | 23 | 0.110 | None | 1.000 | 1 | 2011 | 2011 | |||||
|
disease | Cardiovascular Diseases | Disease or Syndrome | 111 | 29 | 0.110 | None | 1.000 | 1 | 2011 | 2011 | |||||
|
disease | Nutritional and Metabolic Diseases; Musculoskeletal Diseases | Disease or Syndrome | 845 | 61 | 0.110 | None | 1.000 | 1 | 2016 | 2016 | |||||
|
phenotype | Laboratory Procedure | 1156 | 2575 | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | |||||
|
phenotype | Finding | 3 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 64 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 288 | 29 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 112 | 18 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 391 | 49 | 0.100 | None | 0 | |||||||||
|
disease | Acquired Abnormality | 73 | 14 | 0.100 | None | 0 | |||||||||
|
disease | Congenital Abnormality | 489 | 64 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 1127 | 292 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 6 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | Congenital Abnormality | 109 | 6 | 0.100 | None | 0 | ||||||||
|
disease | Cardiovascular Diseases | Anatomical Abnormality | 39 | 15 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 1 | 1 | 0.100 | None | 0 | 1 | ||||||||
|
disease | Musculoskeletal Diseases | Anatomical Abnormality | 41 | 3 | 0.100 | None | 0 | ||||||||
|
disease | Anatomical Abnormality | 3 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | Anatomical Abnormality | 17 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 2 | 0.100 | None | 0 | ||||||||||
|
disease | Eye Diseases | Disease or Syndrome | 30 | 15 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 1010 | 0.100 | None | 0 |