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 | 49 | 13 | 0.390 | None | 0.900 | 10 | 3 | 2011 | 2019 | |||||
|
disease | Disease or Syndrome | 1 | 2 | 0.600 | moderate | 1.000 | 2 | 2 | 2017 | 2018 | |||||
|
disease | Congenital Abnormality | 181 | 4 | 0.100 | None | 0 | |||||||||
|
disease | Congenital Abnormality | 489 | 64 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 18 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 1127 | 292 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 51 | 8 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathologic Function | 244 | 40 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 295 | 14 | 0.100 | None | 0 | 1 | ||||||||
|
disease | Mental or Behavioral Dysfunction | 1825 | 553 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 34 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 43 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 64 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 2 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 68 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 175 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 1010 | 0.100 | None | 0 | ||||||||||
|
disease | Mental or Behavioral Dysfunction | 165 | 13 | 0.100 | None | 0 | 1 | ||||||||
|
disease | Anatomical Abnormality | 97 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 299 | 0.100 | None | 0 | ||||||||||
|
phenotype | Behavior and Behavior Mechanisms | Mental Process | 645 | 2093 | 0.100 | None | 1.000 | 4 | 9 | 2017 | 2019 | ||||
|
phenotype | Behavior and Behavior Mechanisms | Finding | 267 | 591 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | 17 | 19 | 0.100 | None | 0 | 1 | |||||||
|
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; Musculoskeletal Diseases; Nervous System Diseases | Congenital Abnormality | 1064 | 27 | 0.100 | None | 0 |