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; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | Congenital Abnormality | 366 | 80 | 0.100 | None | 1.000 | 1 | 1 | 2014 | 2014 | ||||
|
disease | Nervous System Diseases; Mental Disorders | Disease or Syndrome | 36 | 5 | 0.100 | None | 0 | 1 | |||||||
|
phenotype | Finding | 426 | 39 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 44 | 6 | 0.100 | None | 0 | 1 | ||||||||
|
disease | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Disease or Syndrome | 2 | 4 | 0.100 | None | 0 | 2 | |||||||
|
phenotype | Finding | 4 | 1 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Pathologic Function | 41 | 56 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 75 | 24 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms | Anatomical Abnormality | 67 | 11 | 0.100 | None | 0 | 1 | |||||||
|
disease | Anatomical Abnormality | 3 | 1 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 2 | 1 | 0.100 | None | 0 | 1 | ||||||||
|
disease | Nervous System Diseases | Disease or Syndrome | 8 | 2 | 0.100 | None | 0 | 1 | |||||||
|
disease | Disease or Syndrome | 7 | 1 | 0.100 | None | 0 | 1 | ||||||||
|
disease | Anatomical Abnormality | 23 | 2 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 19 | 13 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 11 | 8 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Eye Diseases | Finding | 6 | 4 | 0.100 | None | 0 | 1 | |||||||
|
phenotype | Finding | 23 | 3 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 3 | 3 | 0.100 | None | 0 | 1 | ||||||||
|
disease | Congenital Abnormality | 417 | 30 | 0.100 | None | 0 | 1 | ||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | Congenital Abnormality | 67 | 18 | 0.100 | None | 0 | 1 | |||||||
|
disease | Nutritional and Metabolic Diseases | Disease or Syndrome | 420 | 42 | 0.100 | None | 0 | 1 | |||||||
|
disease | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | Mental or Behavioral Dysfunction | 340 | 56 | 0.100 | None | 0 | 1 | |||||||
|
phenotype | Nervous System Diseases | Finding | 227 | 27 | 0.100 | None | 0 | 1 | |||||||
|
phenotype | Skin and Connective Tissue Diseases | Sign or Symptom | 159 | 12 | 0.100 | None | 0 | 1 |