PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: COWDEN-LIKE SYNDROME (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676500
Disease: COWDEN-LIKE SYNDROME (disorder)
COWDEN-LIKE SYNDROME (disorder) 		0.010 Biomarker disease BEFREE Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53. 21979946 2012