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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
phenotype | Finding | 1 | 1 | 0.100 | None | 1.000 | 2 | 1 | 2012 | 2015 | |||||
|
disease | Disease or Syndrome | 1 | 0.010 | None | 1.000 | 1 | 2016 | 2016 | |||||||
|
phenotype | Anatomical Abnormality | 1 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 1 | 1 | 0.100 | None | 0 | 1 | |||||||
|
disease | Disease or Syndrome | 2 | 0.300 | None | 1.000 | 1 | 2012 | 2012 | |||||||
|
disease | Congenital Abnormality | 3 | 1 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 4 | 0.100 | None | 0 | ||||||||||
|
disease | Disease or Syndrome | 5 | 3 | 0.100 | None | 1.000 | 2 | 1 | 2012 | 2015 | |||||
|
disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms | Disease or Syndrome | 6 | 61 | 0.600 | None | 1.000 | 5 | 59 | 2012 | 2019 | ||||
|
phenotype | Finding | 6 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Skin and Connective Tissue Diseases | Finding | 8 | 2 | 0.100 | None | 0 | ||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Congenital Abnormality | 9 | 0.010 | None | 1.000 | 1 | 2019 | 2019 | ||||||
|
phenotype | Finding | 9 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 10 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 10 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 10 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 11 | 1 | 0.100 | None | 1.000 | 2 | 1 | 2012 | 2015 | |||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases | Anatomical Abnormality | 11 | 6 | 0.100 | None | 0 | 1 | |||||||
|
disease | Mental or Behavioral Dysfunction | 11 | 7 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 11 | 3 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 12 | 2 | 0.100 | None | 0 | 1 | ||||||||
|
disease | Anatomical Abnormality | 12 | 4 | 0.100 | None | 0 | 1 | ||||||||
|
phenotype | Finding | 13 | 1 | 0.100 | None | 1.000 | 2 | 1 | 2012 | 2015 | |||||
|
disease | Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | Neoplastic Process | 13 | 2 | 0.010 | None | 1.000 | 1 | 2020 | 2020 | |||||
|
phenotype | Finding | 13 | 4 | 0.100 | None | 0 | 1 |