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; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | Disease or Syndrome | 10 | 12 | 0.610 | None | 1.000 | 4 | 2011 | 2018 | |||||
|
disease | Disease or Syndrome | 1 | 2 | 0.600 | None | 1.000 | 5 | 2 | 2011 | 2018 | |||||
|
disease | Disease or Syndrome | 1 | 1 | 0.400 | None | 1.000 | 1 | 1 | 2017 | 2017 | |||||
|
disease | Disease or Syndrome | 2 | 0.300 | None | 1.000 | 4 | 2011 | 2018 | |||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 188 | 43 | 0.300 | moderate | 1.000 | 1 | 2017 | 2017 | |||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 241 | 7 | 0.300 | None | 0 | ||||||||
|
disease | Eye Diseases | Disease or Syndrome | 490 | 167 | 0.110 | None | 1.000 | 1 | 2016 | 2016 | |||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | Disease or Syndrome | 11 | 22 | 0.110 | None | 1.000 | 1 | 1 | 2011 | 2011 | ||||
|
disease | Disease or Syndrome | 3 | 21 | 0.100 | None | 1.000 | 6 | 10 | 1992 | 2015 | |||||
|
phenotype | Organism Attribute | 249 | 517 | 0.100 | None | 1.000 | 1 | 1 | 2011 | 2011 | |||||
|
phenotype | Laboratory Procedure | 486 | 1243 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Laboratory Procedure | 563 | 1418 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | Pathologic Function | 18 | 8 | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||
|
disease | Skin and Connective Tissue Diseases; Immune System Diseases | Disease or Syndrome | 168 | 11 | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||
|
phenotype | Organism Attribute | 1903 | 3972 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
phenotype | Finding | 71 | 10 | 0.100 | None | 0 | |||||||||
|
disease | Congenital Abnormality | 284 | 39 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 105 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 93 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 9 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 407 | 35 | 0.100 | None | 0 | |||||||||
|
disease | Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | Disease or Syndrome | 96 | 103 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 85 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 112 | 9 | 0.100 | None | 0 | |||||||||
|
disease | Congenital Abnormality | 32 | 16 | 0.100 | None | 0 |