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; Hemic and Lymphatic Diseases | Disease or Syndrome | 1 | 9 | 0.700 | definitive | 1.000 | 13 | 9 | 1998 | 2018 | ||||
|
phenotype | Finding | 3 | 0.300 | strong | 1.000 | 2 | 1998 | 2006 | |||||||
|
group | Stomatognathic Diseases | Disease or Syndrome | 17 | 0.300 | None | 1.000 | 1 | 2007 | 2007 | ||||||
|
disease | Anatomical Abnormality | 22 | 0.100 | None | 0 | ||||||||||
|
phenotype | Anatomical Abnormality | 22 | 0.100 | None | 0 | ||||||||||
|
phenotype | Anatomical Abnormality | 22 | 0.100 | None | 0 | ||||||||||
|
disease | Hemic and Lymphatic Diseases | Disease or Syndrome | 24 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 24 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | Anatomical Abnormality | 29 | 1 | 0.100 | None | 0 | ||||||||
|
disease | Anatomical Abnormality | 29 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Male Urogenital Diseases | Finding | 30 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 30 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 32 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 33 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 34 | 0.300 | strong | 1.000 | 1 | 1998 | 1998 | |||||||
|
phenotype | Cell or Molecular Dysfunction | 34 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 40 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 40 | 1 | 0.100 | None | 0 | |||||||||
|
disease | Digestive System Diseases; Neoplasms; Endocrine System Diseases | Neoplastic Process | 43 | 9 | 0.010 | None | 1.000 | 1 | 2004 | 2004 | |||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | Congenital Abnormality | 44 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 45 | 0.100 | None | 0 | ||||||||||
|
phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 50 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 50 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 52 | 0.100 | None | 0 | ||||||||||
|
phenotype | Skin and Connective Tissue Diseases | Finding | 55 | 2 | 0.100 | None | 0 |