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 | Laboratory Procedure | 3 | 6 | 0.100 | None | 1.000 | 1 | 1 | 2014 | 2014 | |||||
|
phenotype | Laboratory Procedure | 3 | 23 | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | |||||
|
phenotype | Laboratory Procedure | 3 | 4 | 0.100 | None | 1.000 | 1 | 1 | 2011 | 2011 | |||||
|
phenotype | Laboratory Procedure | 4 | 4 | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | |||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | Congenital Abnormality | 16 | 42 | 0.010 | None | 1.000 | 1 | 2 | 2014 | 2014 | ||||
|
disease | Disease or Syndrome | 20 | 19 | 0.010 | None | 1.000 | 1 | 1 | 2015 | 2015 | |||||
|
phenotype | Laboratory Procedure | 39 | 568 | 0.100 | None | 1.000 | 1 | 4 | 2011 | 2011 | |||||
|
phenotype | Nutritional and Metabolic Diseases; Cardiovascular Diseases | Pathologic Function | 51 | 205 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | ||||
|
phenotype | Laboratory Procedure | 58 | 306 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Laboratory Procedure | 89 | 111 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Finding | 89 | 111 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 96 | 8 | 0.010 | None | 1.000 | 1 | 2018 | 2018 | |||||
|
phenotype | Organism Function | 109 | 220 | 0.100 | None | 1.000 | 1 | 2 | 2011 | 2011 | |||||
|
phenotype | Diagnostic Procedure | 119 | 249 | 0.100 | None | 1.000 | 1 | 1 | 2012 | 2012 | |||||
|
phenotype | Laboratory Procedure | 134 | 200 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Laboratory Procedure | 138 | 216 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Laboratory Procedure | 223 | 371 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Laboratory Procedure | 234 | 474 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 | |||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases | Sign or Symptom | 259 | 16 | 0.020 | None | 1.000 | 2 | 2012 | 2017 | |||||
|
phenotype | Laboratory Procedure | 269 | 555 | 0.100 | None | 1.000 | 3 | 2 | 2008 | 2013 | |||||
|
phenotype | Laboratory Procedure | 283 | 679 | 0.100 | None | 1.000 | 7 | 6 | 2009 | 2013 | |||||
|
disease | Respiratory Tract Diseases | Disease or Syndrome | 319 | 23 | 0.010 | None | 1.000 | 1 | 2017 | 2017 | |||||
|
disease | Nervous System Diseases | Disease or Syndrome | 320 | 33 | 0.050 | None | 1.000 | 5 | 2001 | 2020 | |||||
|
phenotype | Nutritional and Metabolic Diseases | Disease or Syndrome | 340 | 169 | 0.120 | None | 1.000 | 5 | 8 | 2010 | 2017 | ||||
|
phenotype | Laboratory or Test Result | 401 | 4389 | 0.100 | None | 1.000 | 1 | 1 | 2016 | 2016 |