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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 251 | 350 | 0.100 | None | 1.000 | 16 | 2 | 1994 | 2013 | ||||
|
group | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Anatomical Abnormality | 350 | 26 | 0.100 | None | 1.000 | 14 | 1994 | 2020 | |||||
|
phenotype | Laboratory Procedure | 283 | 679 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Laboratory Procedure | 545 | 1440 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Laboratory Procedure | 269 | 555 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Laboratory Procedure | 486 | 1243 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Laboratory Procedure | 563 | 1418 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Laboratory Procedure | 483 | 1142 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
disease | Male Urogenital Diseases | Congenital Abnormality | 217 | 11 | 0.100 | None | 0 | ||||||||
|
phenotype | Anatomical Abnormality | 11 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Musculoskeletal Diseases | Anatomical Abnormality | 40 | 3 | 0.100 | None | 0 | ||||||||
|
disease | Respiratory Tract Diseases | Congenital Abnormality | 32 | 0.100 | None | 0 | |||||||||
|
disease | Congenital Abnormality | 417 | 30 | 0.100 | None | 0 | |||||||||
|
phenotype | Musculoskeletal Diseases | Finding | 8 | 7 | 0.100 | None | 0 | 1 | |||||||
|
group | Anatomical Abnormality | 96 | 4 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases | Congenital Abnormality | 27 | 4 | 0.100 | None | 0 | ||||||||
|
phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | Pathologic Function | 14 | 2 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 288 | 29 | 0.100 | None | 0 | |||||||||
|
phenotype | Anatomical Abnormality | 104 | 131 | 0.100 | None | 0 | 1 | ||||||||
|
disease | Anatomical Abnormality | 40 | 0.100 | None | 0 | ||||||||||
|
disease | Otorhinolaryngologic Diseases | Disease or Syndrome | 120 | 11 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 116 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathologic Function | 41 | 56 | 0.100 | None | 0 | 2 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | 740 | 337 | 0.100 | None | 0 | ||||||||
|
disease | Mental Disorders | Mental or Behavioral Dysfunction | 842 | 420 | 0.100 | None | 0 |