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 | Laboratory Procedure | 17 | 25 | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | |||||
|
phenotype | Laboratory or Test Result | 593 | 988 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
phenotype | Laboratory or Test Result | 401 | 4389 | 0.100 | None | 1.000 | 1 | 3 | 2012 | 2012 | |||||
|
phenotype | Laboratory Procedure | 593 | 988 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
phenotype | Finding | 653 | 1206 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
disease | Eye Diseases | Disease or Syndrome | 42 | 3 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 37 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 32 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 14 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 12 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 39 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | 20 | 3 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 6 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 20 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | 86 | 5 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 28 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 30 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Congenital Abnormality | 35 | 11 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 60 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 17 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Nervous System Diseases | Finding | 410 | 0.100 | None | 0 | |||||||||
|
disease | Male Urogenital Diseases | Congenital Abnormality | 217 | 11 | 0.100 | None | 0 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | 740 | 337 | 0.100 | None | 0 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | Sign or Symptom | 126 | 4 | 0.100 | None | 0 | ||||||||
|
disease | Respiratory Tract Diseases | Disease or Syndrome | 319 | 23 | 0.100 | None | 0 |