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 | 4 | 0.700 | None | 1.000 | 2 | 4 | 2004 | 2007 | |||||
|
phenotype | Finding | 24 | 1 | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | |||||
|
phenotype | Finding | 158 | 10 | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | |||||
|
disease | Disease or Syndrome | 25 | 2 | 0.010 | None | 1.000 | 1 | 2013 | 2013 | ||||||
|
phenotype | Pathologic Function | 41 | 56 | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | |||||
|
disease | Disease or Syndrome | 1 | 0.010 | None | 1.000 | 1 | 2014 | 2014 | |||||||
|
phenotype | Finding | 215 | 5 | 0.100 | None | 1.000 | 1 | 1 | 2017 | 2017 | |||||
|
disease | Disease or Syndrome | 112 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 98 | 4 | 0.100 | None | 0 | |||||||||
|
disease | Mental or Behavioral Dysfunction | 1825 | 553 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 24 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 25 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 407 | 35 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 429 | 29 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 30 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 21 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 108 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 779 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 3 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 26 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 4 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 779 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 241 | 7 | 0.310 | limited | 1.000 | 1 | 2014 | 2014 | |||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Congenital Abnormality | 237 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Disease or Syndrome | 546 | 541 | 0.500 | strong | 1.000 | 14 | 4 | 1998 | 2018 |