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 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | Disease or Syndrome | 12 | 0.300 | None | 0 | |||||||||
|
disease | Congenital Abnormality | 13 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 17 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 21 | 31 | 0.100 | None | 0 | ||||||||
|
phenotype | Nutritional and Metabolic Diseases | Finding | 21 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 22 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Skin and Connective Tissue Diseases | Finding | 23 | 1 | 0.100 | None | 0 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases | Pathologic Function | 28 | 2 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 30 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 30 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms | Pathologic Function | 37 | 1 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 40 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 41 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 47 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Congenital Abnormality | 57 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms | Finding | 60 | 3 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 65 | 12 | 0.100 | None | 0 | |||||||||
|
phenotype | Endocrine System Diseases | Disease or Syndrome | 90 | 10 | 0.100 | None | 0 | ||||||||
|
phenotype | Skin and Connective Tissue Diseases | Pathologic Function | 91 | 3 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 93 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 97 | 12 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 103 | 31 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 106 | 20 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 108 | 31 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 110 | 13 | 0.100 | None | 0 |