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.
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.110 None 1.000 191 331 1994 2018
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
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: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
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
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.200 None 1.000 14 2 2004 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.100 None 1.000 13 2 2007 2019
CUI: C4523846
Disease: MSI-high
MSI-high 		disease Neoplastic Process 83 9 0.100 None 1.000 12 1999 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.100 None 1.000 12 1997 2015
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease Congenital Abnormality 31 0.520 definitive 1.000 12 1995 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.100 None 1.000 12 1997 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.100 None 1.000 12 2001 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.100 None 1.000 11 2001 2019
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
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 0.110 None 1.000 10 13 1988 2014
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.090 None 1.000 9 1 2007 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.090 None 1.000 9 1 2007 2018
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: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.080 None 1.000 8 2 2006 2019
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
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.070 None 1.000 7 2002 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.070 None 1.000 7 2001 2019
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.060 None 1.000 6 1997 2007
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.060 None 1.000 6 2000 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.050 None 1.000 5 1999 2020
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 89 19 0.050 None 1.000 5 1 2007 2017
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