ERCC6, ERCC excision repair 6, chromatin remodeling factor, 2074
N. diseases: 257; N. variants: 91
Source: ALL
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 | Mental Disorders; Behavior and Behavior Mechanisms | Mental or Behavioral Dysfunction | 8 | 2 | 0.010 | None | 1.000 | 1 | 2018 | 2018 | |||||
|
phenotype | Finding | 11 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 12 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 12 | 0.100 | None | 0 | ||||||||||
|
disease | Digestive System Diseases; Stomatognathic Diseases | Congenital Abnormality | 14 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 14 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 14 | 4 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 14 | 0.100 | None | 0 | ||||||||||
|
disease | Skin and Connective Tissue Diseases | Disease or Syndrome | 15 | 0.650 | strong | 1.000 | 8 | 1982 | 2018 | ||||||
|
disease | Anatomical Abnormality | 15 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Eye Diseases | Disease or Syndrome | 18 | 1 | 0.100 | None | 0 | ||||||||
|
disease | Eye Diseases | Congenital Abnormality | 19 | 1 | 0.100 | None | 0 | ||||||||
|
disease | Pathological Conditions, Signs and Symptoms | Disease or Syndrome | 20 | 2 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 21 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathologic Function | 22 | 3 | 0.100 | None | 0 | |||||||||
|
disease | Anatomical Abnormality | 22 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | 23 | 1 | 0.040 | None | 1.000 | 4 | 2006 | 2015 | |||||
|
phenotype | Eye Diseases | Finding | 24 | 0.300 | None | 1.000 | 1 | 2008 | 2008 | ||||||
|
phenotype | Finding | 25 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 26 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 27 | 0.100 | None | 0 | ||||||||||
|
disease | Eye Diseases | Disease or Syndrome | 28 | 0.300 | None | 1.000 | 1 | 2008 | 2008 | ||||||
|
group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Disease or Syndrome | 28 | 0.100 | None | 0 | |||||||||
|
disease | Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | Neoplastic Process | 29 | 0.300 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | Disease or Syndrome | 33 | 15 | 0.010 | None | 1.000 | 1 | 2003 | 2003 |