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 | 89 | 0.100 | None | 0 | ||||||||||
|
disease | Finding | 40 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 17 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | Congenital Abnormality | 198 | 13 | 0.100 | None | 0 | ||||||||
|
disease | Anatomical Abnormality | 33 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 1 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 171 | 5 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 55 | 5 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 17 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 12 | 4 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 42 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 12 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 21 | 2 | 0.100 | None | 0 | 1 | ||||||||
|
disease | Musculoskeletal Diseases | Anatomical Abnormality | 40 | 3 | 0.100 | None | 0 | ||||||||
|
disease | Anatomical Abnormality | 97 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 95 | 8 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 69 | 5 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 148 | 18 | 0.010 | None | 1.000 | 1 | 1 | 2017 | 2017 | |||||
|
phenotype | Finding | 4 | 0.100 | None | 0 | ||||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Disease or Syndrome | 205 | 8 | 0.100 | None | 0 | 1 | |||||||
|
phenotype | Finding | 3 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital Abnormality | 24 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Neoplasms | Neoplastic Process | 5 | 0.010 | None | 1.000 | 1 | 2017 | 2017 | ||||||
|
disease | Skin and Connective Tissue Diseases | Disease or Syndrome | 64 | 11 | 0.200 | None | 1.000 | 24 | 4 | 1996 | 2019 | ||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 46 | 21 | 1.000 | definitive | 0.974 | 152 | 12 | 1994 | 2020 |