Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
0.010 AlteredExpression disease BEFREE We performed an immunohistochemical study with antibodies against MSH6, MSH2, MLH1, and PMS2, which demonstrated preserved nuclear expression of the mismatch repair proteins, therefore ruling out Muir-Torre syndrome. 28730249 2017