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 | 2 | 0.600 | moderate | 1.000 | 2 | 2 | 2016 | 2019 | |||||
|
disease | Mental or Behavioral Dysfunction | 1825 | 553 | 0.110 | None | 1.000 | 2 | 2 | 2016 | 2019 | |||||
|
phenotype | Laboratory or Test Result | 401 | 4389 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | Congenital Abnormality | 198 | 13 | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | ||||
|
phenotype | Finding | 271 | 106 | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | |||||
|
phenotype | Congenital Abnormality | 5 | 2 | 0.100 | None | 1.000 | 1 | 2 | 2016 | 2016 | |||||
|
phenotype | Finding | 407 | 35 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 106 | 20 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 145 | 10 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 129 | 21 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 159 | 25 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 426 | 39 | 0.100 | None | 0 | |||||||||
|
phenotype | Mental Disorders | Finding | 73 | 6 | 0.100 | None | 0 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | 32 | 2 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 429 | 29 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 21 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | Finding | 422 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 71 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 108 | 8 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | 955 | 164 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 39 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | 156 | 25 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 53 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 105 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 85 | 9 | 0.100 | None | 0 |