FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Multiple adenomatous polyps ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334294
Disease: Multiple adenomatous polyps
Multiple adenomatous polyps 		0.010 Biomarker disease BEFREE For three patients with AIMAH, there was family history of CS; germline mutations were identified in three other patients in the genes for menin (one), fumarate hydratase (one), and adenomatosis polyposis coli (APC) (one); a PDE11A gene variant was found in another. 19509103 2009