MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
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 Nonpolyposis Colorectal Cancer
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 174 1331 0.800 definitive 0.987 306 240 1988 2020
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.800 None 0.968 63 12 1999 2020
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome 77 75 0.800 definitive 0.968 31 8 1997 2019
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 103 65 0.700 definitive 0.977 128 4 1988 2020
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 2 78 0.700 None 1.000 57 78 1994 2017
Hereditary Nonpolyposis Colorectal Neoplasms
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 40 875 0.640 definitive 1.000 142 283 1991 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.600 strong 0.974 114 36 1988 2020
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 8 20 0.570 None 1.000 9 2007 2020
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.570 strong 1.000 7 2002 2019
Hereditary non-polyposis colorectal cancer syndrome
disease Congenital Abnormality 31 0.520 definitive 1.000 12 1995 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.500 None 0.909 22 10 2000 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.450 None 1.000 5 5 2002 2017
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1235 197 0.400 None 0.974 39 2 2000 2020
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.400 None 1.000 1 2018 2018
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.400 None 0 1
Constitutional Mismatch Repair Deficiency Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 6 1 0.340 definitive 1.000 16 1997 2019
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.340 None 1.000 4 1 2010 2020
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 261 32 0.320 None 1.000 3 1999 2008
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.310 disputed 1.000 5 1 2002 2018
CUI: C0920269
Disease: Microsatellite Instability
Microsatellite Instability
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 15 0.300 None 1.000 1 2015 2015
familial non-medullary thyroid cancer
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 17 1 0.300 limited 1.000 1 2015 2015
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.300 None 1.000 1 2011 2011
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.300 None 1.000 1 2018 2018
CUI: C1721098
Disease: Replication Error Phenotype
Replication Error Phenotype
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 15 0.300 None 1.000 1 2015 2015
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
Thyroid Gland Follicular Adenoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 202 14 0.300 None 1.000 1 2018 2018