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 | 1 | 17 | 0.760 | None | 1.000 | 1 | 17 | 2013 | 2019 | |||||
|
disease | Mental or Behavioral Dysfunction | 303 | 505 | 0.130 | None | 0.667 | 0 | 1 | 2013 | 2019 | |||||
|
disease | Congenital Abnormality | 335 | 611 | 0.110 | None | 1.000 | 9 | 3 | 2011 | 2017 | |||||
|
phenotype | Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | Sign or Symptom | 37 | 41 | 0.110 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||
|
disease | Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders | Disease or Syndrome | 89 | 118 | 0.110 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | 336 | 579 | 0.100 | None | 1.000 | 9 | 3 | 2011 | 2017 | ||||
|
group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 237 | 350 | 0.100 | None | 1.000 | 9 | 1 | 2011 | 2017 | ||||
|
phenotype | Finding | 2 | 3 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
disease | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | 17 | 18 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||
|
phenotype | Congenital Abnormality | 6 | 7 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | 2 | 2 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||
|
phenotype | Finding | 33 | 50 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 28 | 31 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Congenital Abnormality | 6 | 7 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 5 | 5 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 10 | 10 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 19 | 24 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 8 | 8 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
disease | Musculoskeletal Diseases | Anatomical Abnormality | 10 | 15 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||
|
phenotype | Finding | 8 | 8 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | 46 | 72 | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||
|
phenotype | Finding | 17 | 19 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 8 | 8 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Anatomical Abnormality | 1 | 1 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Pathologic Function | 9 | 10 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 |