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 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | Disease or Syndrome | 2 | 4 | 0.710 | definitive | 1.000 | 10 | 4 | 1982 | 2019 | ||||
|
disease | Musculoskeletal Diseases | Disease or Syndrome | 96 | 1 | 0.300 | None | 1.000 | 1 | 2009 | 2009 | |||||
|
disease | Musculoskeletal Diseases | Disease or Syndrome | 1827 | 247 | 0.300 | None | 1.000 | 1 | 2009 | 2009 | |||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Sign or Symptom | 453 | 97 | 0.110 | None | 1.000 | 1 | 1 | 2019 | 2019 | ||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Finding | 967 | 579 | 0.100 | None | 1.000 | 7 | 3 | 2007 | 2015 | ||||
|
phenotype | Laboratory Procedure | 1156 | 2575 | 0.100 | None | 1.000 | 1 | 1 | 2018 | 2018 | |||||
|
disease | Mental Disorders | Disease or Syndrome | 333 | 80 | 0.100 | None | 0 | ||||||||
|
phenotype | Nutritional and Metabolic Diseases | Finding | 169 | 2 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 28 | 0.100 | None | 0 | ||||||||||
|
phenotype | Sign or Symptom | 7 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Nervous System Diseases | Finding | 410 | 0.100 | None | 0 | |||||||||
|
group | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders | Mental or Behavioral Dysfunction | 360 | 38 | 0.100 | None | 0 | ||||||||
|
disease | Nervous System Diseases; Mental Disorders | Mental or Behavioral Dysfunction | 236 | 10 | 0.100 | None | 0 | ||||||||
|
phenotype | Nervous System Diseases | Finding | 152 | 7 | 0.100 | None | 0 | ||||||||
|
disease | Congenital Abnormality | 417 | 30 | 0.100 | None | 0 | |||||||||
|
disease | Mental or Behavioral Dysfunction | 1825 | 553 | 0.100 | None | 0 | |||||||||
|
phenotype | Mental Disorders | Finding | 384 | 34 | 0.100 | None | 0 | ||||||||
|
phenotype | Mental Disorders | Finding | 33 | 5 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 779 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 140 | 0.100 | None | 0 | ||||||||||
|
disease | Disease or Syndrome | 1 | 1 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 10 | 0.100 | None | 0 | ||||||||||
|
phenotype | Anatomical Abnormality | 24 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 21 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Anatomical Abnormality | 1 | 0.100 | None | 0 |