EXO1, exonuclease 1, 9156

N. diseases: 87; N. variants: 22
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.
Hereditary non-polyposis colorectal cancer syndrome
disease Congenital Abnormality 31 0.300 disputed 1.000 6 2000 2014
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.050 None 0.800 5 3 2003 2016
CUI: C1629609
Disease: Age at menopause
Age at menopause
phenotype Finding 129 209 0.100 None 1.000 3 3 2012 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2019 2019
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2016 2016
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
disease Disease or Syndrome 695 94 0.010 None 1.000 1 2018 2018
CUI: C3809768
Disease: IMMUNODEFICIENCY 13
IMMUNODEFICIENCY 13
disease Disease or Syndrome 22 1 0.010 None 1.000 1 2017 2017
Hereditary Nonpolyposis Colorectal Cancer
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 174 1331 0.350 disputed 0.778 9 2000 2016
Hereditary Nonpolyposis Colorectal Neoplasms
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 40 875 0.310 disputed 1.000 6 2000 2014
Colorectal cancer, hereditary nonpolyposis, type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 24 179 0.300 disputed 1.000 6 2000 2014
Polycystic Kidney, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 280 35 0.010 None 1.000 1 1992 1992
Hereditary Non-Polyposis Colon Cancer Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 23 154 0.300 disputed 1.000 6 2000 2014
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 137 35 0.010 None 1.000 1 2019 2019
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 71 0.010 None 1.000 1 2017 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.010 None 1.000 1 2012 2012
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.010 None 1.000 1 2012 2012
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 155 132 0.020 None 1.000 2 2017 2019
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.010 None 1.000 1 2017 2017
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.010 None 1.000 1 1 2019 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.360 None 0.857 7 4 2003 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.340 None 1.000 5 3 2011 2018
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.330 None 1.000 3 2003 2007
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.010 None 1.000 1 2014 2014