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 | 1 | 11 | 0.700 | None | 1.000 | 3 | 11 | 2014 | 2016 | |||||
|
phenotype | Finding | 90 | 119 | 0.100 | None | 1.000 | 1 | 1 | 2019 | 2019 | |||||
|
disease | Mental or Behavioral Dysfunction | 1825 | 553 | 0.110 | None | 1.000 | 1 | 2017 | 2017 | ||||||
|
phenotype | Disease or Syndrome | 84 | 7 | 0.010 | None | 1.000 | 1 | 2017 | 2017 | ||||||
|
disease | Congenital Abnormality | 489 | 64 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 89 | 11 | 0.100 | None | 0 | |||||||||
|
disease | Congenital Abnormality | 176 | 23 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 108 | 31 | 0.100 | None | 0 | 2 | ||||||||
|
disease | Congenital Abnormality | 417 | 30 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 32 | 6 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 106 | 20 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 129 | 21 | 0.100 | None | 0 | 2 | ||||||||
|
phenotype | Finding | 67 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 149 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 427 | 32 | 0.100 | None | 0 | |||||||||
|
disease | Disease or Syndrome | 58 | 20 | 0.100 | None | 0 | 2 | ||||||||
|
phenotype | Finding | 32 | 6 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 160 | 246 | 0.100 | None | 0 | 2 | ||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | Congenital Abnormality | 1064 | 27 | 0.130 | None | 1.000 | 3 | 1 | 2014 | 2017 | ||||
|
disease | Eye Diseases; Nervous System Diseases | Disease or Syndrome | 716 | 89 | 0.100 | None | 0 | 2 | |||||||
|
phenotype | Mental Disorders | Mental or Behavioral Dysfunction | 584 | 68 | 0.010 | None | 1.000 | 1 | 2017 | 2017 | |||||
|
phenotype | Mental Disorders | Mental or Behavioral Dysfunction | 8 | 5 | 0.100 | None | 0 | 2 | |||||||
|
group | Nervous System Diseases | Disease or Syndrome | 345 | 10 | 0.010 | None | 1.000 | 1 | 2016 | 2016 | |||||
|
disease | Nervous System Diseases | Disease or Syndrome | 1215 | 339 | 0.010 | None | 1.000 | 1 | 2014 | 2014 | |||||
|
group | Nervous System Diseases | Disease or Syndrome | 977 | 39 | 0.010 | None | 1.000 | 1 | 2016 | 2016 |