ERCC2, ERCC excision repair 2, TFIIH core complex helicase subunit, 2068
N. diseases: 499; N. variants: 72
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. | ||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases | Disease or Syndrome | 41 | 14 | 0.010 | None | 1.000 | 1 | 2020 | 2020 | |||||
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disease | Anatomical Abnormality | 34 | 0.100 | None | 0 | ||||||||||
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phenotype | Finding | 8 | 0.100 | None | 0 | ||||||||||
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disease | Finding | 15 | 1 | 0.100 | None | 0 | |||||||||
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phenotype | Pathologic Function | 42 | 1 | 0.100 | None | 0 | |||||||||
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disease | Finding | 23 | 0.100 | None | 0 | ||||||||||
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phenotype | Finding | 215 | 5 | 0.100 | None | 0 | |||||||||
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phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | Finding | 140 | 16 | 0.100 | None | 0 | ||||||||
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disease | Anatomical Abnormality | 40 | 5 | 0.100 | None | 0 | |||||||||
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phenotype | Finding | 11 | 0.100 | None | 0 | ||||||||||
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disease | Musculoskeletal Diseases | Acquired Abnormality | 149 | 2 | 0.100 | None | 0 | ||||||||
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phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases | Sign or Symptom | 95 | 2 | 0.100 | None | 0 | ||||||||
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disease | Pathological Conditions, Signs and Symptoms; Neoplasms | Neoplastic Process | 639 | 50 | 0.020 | None | 1.000 | 2 | 1 | 2008 | 2014 | ||||
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disease | Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | Neoplastic Process | 1293 | 222 | 0.030 | None | 1.000 | 3 | 1 | 2008 | 2013 | ||||
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disease | Neoplasms | Neoplastic Process | 633 | 22 | 0.020 | None | 1.000 | 2 | 2 | 2006 | 2014 | ||||
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group | Neoplasms | Neoplastic Process | 2235 | 168 | 0.050 | None | 1.000 | 5 | 1 | 2003 | 2010 | ||||
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disease | Digestive System Diseases; Neoplasms | Neoplastic Process | 468 | 81 | 0.040 | None | 1.000 | 4 | 4 | 2005 | 2014 | ||||
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disease | Neoplasms | Neoplastic Process | 2438 | 563 | 0.040 | None | 1.000 | 4 | 2 | 2005 | 2017 | ||||
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group | Neoplasms | Neoplastic Process | 1183 | 103 | 0.020 | None | < 0.001 | 2 | 2006 | 2006 | |||||
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disease | Digestive System Diseases; Neoplasms | Neoplastic Process | 452 | 213 | 0.030 | None | 1.000 | 3 | 1 | 2006 | 2007 | ||||
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disease | Neoplasms | Neoplastic Process | 120 | 20 | 0.010 | None | 1.000 | 1 | 2 | 2005 | 2005 | ||||
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disease | Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | Neoplastic Process | 504 | 46 | 0.040 | None | 1.000 | 4 | 1 | 2009 | 2018 | ||||
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disease | Neoplasms | Neoplastic Process | 2528 | 98 | 0.010 | None | 1.000 | 1 | 1 | 2014 | 2014 | ||||
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disease | Digestive System Diseases; Neoplasms | Neoplastic Process | 1377 | 72 | 0.010 | None | 1.000 | 1 | 2013 | 2013 | |||||
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disease | Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | Neoplastic Process | 1169 | 66 | 0.020 | None | 1.000 | 2 | 2 | 2009 | 2012 |