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 | 10 | 0.010 | None | 1.000 | 1 | 2001 | 2001 | |||||||
|
disease | Anatomical Abnormality | 28 | 31 | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | |||||
|
disease | Eye Diseases | Disease or Syndrome | 49 | 3 | 0.100 | None | 0 | ||||||||
|
disease | Congenital Abnormality | 6 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | Congenital Abnormality | 68 | 17 | 0.100 | None | 0 | ||||||||
|
disease | Finding | 1 | 8 | 0.100 | None | 0 | 8 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | Sign or Symptom | 227 | 7 | 0.100 | None | 0 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | Finding | 43 | 2 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 19 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 6 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 24 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 77 | 11 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 16 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 9 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 41 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 7 | 0.100 | None | 0 | ||||||||||
|
phenotype | Eye Diseases | Finding | 87 | 3 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 4 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 14 | 0.100 | None | 0 | ||||||||||
|
group | Eye Diseases | Disease or Syndrome | 714 | 56 | 0.030 | None | 1.000 | 3 | 2001 | 2015 | |||||
|
group | Eye Diseases | Disease or Syndrome | 400 | 14 | 0.310 | limited | 1.000 | 1 | 2001 | 2001 | |||||
|
group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Disease or Syndrome | 9 | 0.010 | None | 1.000 | 1 | 1996 | 1996 | ||||||
|
group | Eye Diseases | Disease or Syndrome | 71 | 75 | 0.100 | None | 1.000 | 1 | 1 | 2013 | 2013 | ||||
|
group | Eye Diseases | Disease or Syndrome | 49 | 24 | 0.010 | None | 1.000 | 1 | 2012 | 2012 |