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 | Finding | 211 | 411 | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | |||||
|
disease | Congenital Abnormality | 176 | 23 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 159 | 25 | 0.100 | None | 0 | |||||||||
|
disease | Pathological Conditions, Signs and Symptoms | Disease or Syndrome | 607 | 12 | 0.100 | None | 0 | ||||||||
|
disease | Otorhinolaryngologic Diseases | Disease or Syndrome | 120 | 11 | 0.100 | None | 0 | ||||||||
|
phenotype | Infections; Respiratory Tract Diseases | Finding | 318 | 7 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 73 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 35 | 13 | 0.100 | None | 0 | ||||||||
|
disease | Musculoskeletal Diseases | Disease or Syndrome | 850 | 135 | 0.100 | None | 0 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Sign or Symptom | 2152 | 553 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 85 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 182 | 25 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 1127 | 292 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 1010 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 35 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 85 | 7 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Congenital Abnormality | 76 | 6 | 0.100 | None | 0 | ||||||||
|
disease | Eye Diseases; Nervous System Diseases | Disease or Syndrome | 716 | 89 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 104 | 13 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 145 | 10 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 211 | 25 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 52 | 7 | 0.100 | None | 0 | ||||||||
|
phenotype | Laboratory Procedure | 264 | 1463 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
group | Infections | Disease or Syndrome | 1471 | 42 | 0.010 | None | 1.000 | 1 | 2017 | 2017 |