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 | Sign or Symptom | 23 | 4 | 0.010 | None | 1.000 | 1 | 2 | 2012 | 2012 | |||||
|
phenotype | Sign or Symptom | 65 | 1 | 0.010 | None | 1.000 | 1 | 2004 | 2004 | ||||||
|
disease | Disease or Syndrome | 4 | 0.010 | None | 1.000 | 1 | 2018 | 2018 | |||||||
|
phenotype | Laboratory Procedure | 1156 | 2575 | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | |||||
|
disease | Disease or Syndrome | 1 | 0.010 | None | 1.000 | 1 | 2017 | 2017 | |||||||
|
phenotype | Finding | 4 | 6 | 0.100 | None | 0 | 2 | ||||||||
|
disease | Disease or Syndrome | 45 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 1127 | 292 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 69 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 19 | 0.100 | None | 0 | ||||||||||
|
disease | Mental or Behavioral Dysfunction | 1825 | 553 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 60 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 85 | 7 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 137 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 175 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 1010 | 0.100 | None | 0 | ||||||||||
|
phenotype | Anatomical Abnormality | 24 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 2 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 75 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 68 | 8 | 0.100 | None | 0 | |||||||||
|
disease | Cardiovascular Diseases | Disease or Syndrome | 152 | 16 | 0.010 | None | 1.000 | 1 | 2018 | 2018 | |||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 41 | 3 | 0.100 | None | 0 | ||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | 488 | 90 | 0.030 | None | 1.000 | 3 | 2008 | 2017 | |||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | Congenital Abnormality | 1261 | 77 | 0.100 | None | 0 | ||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | Disease or Syndrome | 68 | 1 | 0.100 | None | 0 |