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.
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.985 204 11 1993 2020
CUI: C4523846
Disease: MSI-high
MSI-high
disease Neoplastic Process 83 9 0.100 None 0.971 35 3 1999 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 0.941 17 1 1996 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 0.857 14 2002 2019
CUI: C4524257
Disease: MSI-low
MSI-low
disease Neoplastic Process 37 2 0.100 None 0.900 10 2000 2016
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.090 None 1.000 9 2001 2019
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia
phenotype Disease or Syndrome 266 24 0.050 None 1.000 5 2002 2018
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.030 None 1.000 3 2010 2016
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.030 None 1.000 3 2003 2008
Hereditary non-polyposis colorectal cancer syndrome
disease Congenital Abnormality 31 0.300 None 1.000 2 2012 2015
CUI: C1515091
Disease: Surgically-Created Resection Cavity
Surgically-Created Resection Cavity
disease Acquired Abnormality 16 3 0.020 None 1.000 2 1 2012 2016
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp
disease Neoplastic Process 48 6 0.020 None 1.000 2 2016 2016
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma
disease Neoplastic Process 162 3 0.010 None 1.000 1 2003 2003
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma
disease Neoplastic Process 166 3 0.010 None 1.000 1 2003 2003
Malignant neoplasm of stomach stage IV
disease Neoplastic Process 78 7 0.010 None 1.000 1 2 2018 2018
CUI: C0332853
Disease: Anastomosis
Anastomosis
disease Acquired Abnormality 155 2 0.010 None 1.000 1 2018 2018
tubular adenomas and adenocarcinomas
disease Neoplastic Process 2 0.010 None 1.000 1 2005 2005
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: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 1998 1998
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.010 None 1.000 1 2005 2005
CUI: C0813147
Disease: Stage I Endometrial Carcinoma
Stage I Endometrial Carcinoma
disease Neoplastic Process 10 0.010 None 1.000 1 2004 2004
Undifferentiated (Embryonal) Sarcoma
disease Neoplastic Process 35 4 0.010 None 1.000 1 2015 2015
CUI: C0940937
Disease: precancerous lesions
precancerous lesions
phenotype Neoplastic Process 270 19 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: C1167791
Disease: Skin toxicity
Skin toxicity
disease Disease or Syndrome 62 24 0.010 None 1.000 1 1 2014 2014