MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
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: C1711192
Disease: Sporadic Gastric Adenocarcinoma
Sporadic Gastric Adenocarcinoma
disease Neoplastic Process 1 0.010 None 1.000 1 1997 1997
CUI: C2033037
Disease: Pancreatic Vipoma
Pancreatic Vipoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 1 0.010 None 1.000 1 2012 2012
CUI: C3805742
Disease: Sebaceous gland tumors
Sebaceous gland tumors
disease Neoplastic Process 2 0.010 None 1.000 1 2006 2006
CUI: C0497538
Disease: Benign digestive system neoplasms
Benign digestive system neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 2 0.100 None 0
CUI: C3804991
Disease: Benign genitourinary tract neoplasm
Benign genitourinary tract neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2 0.100 None 0
CUI: C0153619
Disease: Malignant neoplasm of ureter
Malignant neoplasm of ureter
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 3 0.020 None 1.000 2 2008 2019
CUI: C1112503
Disease: Tubular adenoma of colon
Tubular adenoma of colon
disease Neoplastic Process 3 0.010 None 1.000 1 2002 2002
CUI: C1275192
Disease: Subungual keratoacanthoma
Subungual keratoacanthoma
disease Skin and Connective Tissue Diseases Neoplastic Process 3 0.010 None 1.000 1 2009 2009
CUI: C1833970
Disease: COLORECTAL CANCER, SOMATIC
COLORECTAL CANCER, SOMATIC
disease Neoplastic Process 3 0.010 None 1.000 1 2007 2007
Lynch syndrome I (site-specific colonic cancer)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 1.000 1 2009 2009
Malignant neoplasm of ascending colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 3 3 0.100 None 0 1
CUI: C1834728
Disease: Malignant genitourinary tract tumor
Malignant genitourinary tract tumor
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 3 0.100 None 0
CUI: C0041955
Disease: Ureteral Neoplasms
Ureteral Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 4 0.010 None 1.000 1 2009 2009
Childhood Small Intestinal Carcinoma
disease Neoplastic Process 4 0.010 None 1.000 1 2008 2008
CUI: C0600079
Disease: Ureter Carcinoma
Ureter Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 5 0.010 None 1.000 1 2019 2019
CUI: C1302363
Disease: Dysplasia of colon
Dysplasia of colon
disease Digestive System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2004 2004
CUI: C1881600
Disease: Malignant Vipoma
Malignant Vipoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 5 1 0.010 None 1.000 1 2012 2012
Constitutional Mismatch Repair Deficiency Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 6 1 0.300 definitive 1.000 10 1995 2009
CUI: C0011993
Disease: Vipoma
Vipoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 6 0.010 None 1.000 1 2012 2012
CUI: C1860335
Disease: Axillary freckling
Axillary freckling
phenotype Skin and Connective Tissue Diseases Finding 6 12 0.100 None 0
CUI: C3842001
Disease: Adult only
Adult only
phenotype Finding 6 0.300 strong 0
Microsatellite instability-high solid malignant tumor
disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2001 2001
CUI: C0153436
Disease: Malignant neoplasm of sigmoid colon
Malignant neoplasm of sigmoid colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 7 1 0.100 None 0 1
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 0.800 strong 0.967 30 10 1994 2019
CUI: C0027663
Disease: Neoplasms, Multiple Primary
Neoplasms, Multiple Primary
phenotype Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2002 2002