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 | 2 | 5 | 0.600 | None | 1.000 | 3 | 5 | 2012 | 2017 | |||||
|
phenotype | Finding | 2 | 1 | 0.300 | strong | 0 | |||||||||
|
phenotype | Laboratory Procedure | 3 | 3 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
phenotype | Finding | 3 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 5 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 5 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 6 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | Disease or Syndrome | 8 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 10 | 14 | 0.100 | None | 1.000 | 1 | 1 | 2015 | 2015 | |||||
|
phenotype | Finding | 10 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Disease or Syndrome | 12 | 4 | 0.010 | None | 1.000 | 1 | 1 | 2014 | 2014 | |||||
|
disease | Pathological Conditions, Signs and Symptoms | Disease or Syndrome | 13 | 3 | 0.100 | None | 0 | ||||||||
|
disease | Pathological Conditions, Signs and Symptoms; Digestive System Diseases | Disease or Syndrome | 16 | 0.100 | None | 0 | |||||||||
|
disease | Pathological Conditions, Signs and Symptoms; Digestive System Diseases | Disease or Syndrome | 19 | 0.100 | None | 0 | |||||||||
|
phenotype | Skin and Connective Tissue Diseases | Finding | 19 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 19 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 20 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Cardiovascular Diseases | Disease or Syndrome | 23 | 3 | 0.100 | None | 0 | ||||||||
|
phenotype | Skin and Connective Tissue Diseases | Finding | 23 | 1 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 23 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 34 | 0.100 | None | 0 | |||||||||
|
disease | Disease or Syndrome | 45 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Eye Diseases | Disease or Syndrome | 49 | 69 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | ||||
|
disease | Disease or Syndrome | 56 | 67 | 0.030 | None | 1.000 | 3 | 1 | 2009 | 2014 | |||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | Finding | 74 | 32 | 0.100 | None | 0 |