MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine
0.030 Biomarker disease BEFREE Small Bowel Adenocarcinoma Frequently Exhibits Lynch Syndrome-associated Mismatch Repair Protein Deficiency But Does Not Harbor Sporadic MLH1 Deficiency. 27258561 2017
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine
0.030 PosttranslationalModification disease BEFREE Hypermethylation of hMLH1 and p14(ARF) was present in 23% and 9% of SB-AC, respectively. 16619216 2006
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine
0.030 GeneticVariation disease BEFREE Cutaneous (eight sebaceous adenomas, one sebaceous carcinoma and one keratoacanthoma) and internal tumors (four colonic adenocarcinomas, two endometrial carcinomas, two transitional cell carcinomas of renal pelvis and ureter, one adenocarcinoma of the small bowel, one ovarian carcinoma and one colonic tubular adenoma) were obtained from six patients with MTS and were subjected to microsatellite instability (MI) analysis, and to immunostaining for MLH-1 and MSH-2. 12139636 2002