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 | Musculoskeletal Diseases | Anatomical Abnormality | 155 | 17 | 0.100 | None | 0 | ||||||||
|
disease | Stomatognathic Diseases | Congenital Abnormality | 181 | 19 | 0.100 | None | 0 | ||||||||
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disease | Pathological Conditions, Signs and Symptoms | Disease or Syndrome | 20 | 2 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 779 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 12 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 1127 | 292 | 0.100 | None | 0 | |||||||||
|
phenotype | Skin and Connective Tissue Diseases | Pathologic Function | 91 | 3 | 0.100 | None | 0 | ||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 151 | 2 | 0.100 | None | 0 | ||||||||
|
disease | Eye Diseases | Congenital Abnormality | 19 | 1 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 305 | 22 | 0.100 | None | 0 | |||||||||
|
disease | Acquired Abnormality | 73 | 14 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 168 | 7 | 0.100 | None | 0 | |||||||||
|
phenotype | Cell or Molecular Dysfunction | 151 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 11 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Nervous System Diseases | Finding | 55 | 5 | 0.100 | None | 0 | ||||||||
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phenotype | Finding | 288 | 29 | 0.100 | None | 0 | |||||||||
|
disease | Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | Neoplastic Process | 29 | 0.300 | None | 0 | |||||||||
|
phenotype | Finding | 137 | 0.100 | None | 0 | ||||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms | Finding | 49 | 0.100 | None | 0 | |||||||||
|
phenotype | Eye Diseases | Finding | 46 | 0.100 | None | 0 | |||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | Finding | 171 | 54 | 0.100 | None | 0 | ||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms | Finding | 156 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 12 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Nutritional and Metabolic Diseases; Nervous System Diseases | Finding | 103 | 8 | 0.100 | None | 0 | ||||||||
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phenotype | Mental Disorders | Mental or Behavioral Dysfunction | 508 | 121 | 0.100 | None | 0 |