MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
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: C0149640
Disease: Cecum Carcinoma
Cecum Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2000 2000
CUI: C3272608
Disease: Colorectal Large Cell Neuroendocrine Carcinoma
Colorectal Large Cell Neuroendocrine Carcinoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C4725945
Disease: Mutation-Negative Lynch Syndrome
Mutation-Negative Lynch Syndrome 		disease Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C0334291
Disease: tubular adenomas and adenocarcinomas
tubular adenomas and adenocarcinomas 		disease Neoplastic Process 2 0.010 None 1.000 1 2005 2005
CUI: C1711390
Disease: Rectosigmoid Adenocarcinoma
Rectosigmoid Adenocarcinoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C1864801
Disease: TRICHILEMMAL CYST 1
TRICHILEMMAL CYST 1 		disease Neoplasms Disease or Syndrome 2 0.010 None 1.000 1 2005 2005
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: C0013291
Disease: Duodenal Neoplasms
Duodenal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2013 2013
CUI: C1112503
Disease: Tubular adenoma of colon
Tubular adenoma of colon 		disease Neoplastic Process 3 0.010 None 1.000 1 2002 2002
CUI: C1833970
Disease: COLORECTAL CANCER, SOMATIC
COLORECTAL CANCER, SOMATIC 		disease Neoplastic Process 3 0.010 None 1.000 1 2007 2007
CUI: C4274343
Disease: Solitary rectal ulcer syndrome
Solitary rectal ulcer syndrome 		disease Disease or Syndrome 3 0.010 None 1.000 1 2005 2005
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
CUI: C1333856
Disease: Grade 3 Colorectal Adenocarcinoma
Grade 3 Colorectal Adenocarcinoma 		disease Neoplastic Process 4 0.010 None 1.000 1 2004 2004
CUI: C3272809
Disease: Colorectal Serrated Adenocarcinoma
Colorectal Serrated Adenocarcinoma 		disease Neoplastic Process 4 2 0.010 None 1.000 1 2011 2011
CUI: C4086171
Disease: Childhood Small Intestinal Carcinoma
Childhood Small Intestinal Carcinoma 		disease Neoplastic Process 4 0.010 None 1.000 1 2008 2008
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: 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 1998 2019
CUI: C0206622
Disease: Adenomyoma
Adenomyoma 		disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2003 2003
CUI: C0342510
Disease: Ovarian dysgenesis
Ovarian dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 6 2 0.010 None 1.000 1 2012 2012
CUI: C0455731
Disease: Knight's move in thought
Knight's move in thought 		disease Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2004 2004
CUI: C1335113
Disease: Opisthorchis Viverrini-Related Cholangiocarcinoma
Opisthorchis Viverrini-Related Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2005 2005
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