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; Musculoskeletal Diseases | Congenital Abnormality | 1 | 10 | 0.910 | None | 1.000 | 2 | 10 | 2010 | 2018 | ||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | Disease or Syndrome | 3 | 7 | 0.610 | None | 1.000 | 1 | 7 | 2019 | 2019 | ||||
|
phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | Finding | 86 | 6 | 0.400 | None | 0 | 2 | |||||||
|
disease | Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases | Disease or Syndrome | 4 | 0.300 | None | 1.000 | 1 | 2019 | 2019 | ||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Anatomical Abnormality | 17 | 1 | 0.120 | None | 1.000 | 2 | 2010 | 2013 | |||||
|
phenotype | Organism Attribute | 1903 | 3972 | 0.100 | None | 1.000 | 4 | 4 | 2008 | 2019 | |||||
|
phenotype | Organism Attribute | 249 | 517 | 0.100 | None | 1.000 | 2 | 2 | 2008 | 2010 | |||||
|
phenotype | Clinical Attribute | 430 | 746 | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | |||||
|
phenotype | Organism Attribute | 565 | 1138 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
phenotype | Laboratory Procedure | 160 | 355 | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | |||||
|
phenotype | Organ or Tissue Function | 272 | 1169 | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | |||||
|
phenotype | Finding | 129 | 21 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 15 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 15 | 0.100 | None | 0 | ||||||||||
|
disease | Mental Disorders | Disease or Syndrome | 118 | 59 | 0.100 | None | 0 | 2 | |||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | Congenital Abnormality | 49 | 19 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 25 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 42 | 19 | 0.100 | None | 0 | |||||||||
|
phenotype | Mental Disorders | Finding | 384 | 34 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 265 | 23 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 83 | 7 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 4 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 35 | 5 | 0.100 | None | 0 | 2 | ||||||||
|
phenotype | Finding | 43 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 19 | 2 | 0.100 | None | 0 |