FH, fumarate hydratase, 2271

N. diseases: 231; N. variants: 143
Disease: Myomatous neoplasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282606
Disease: Myomatous neoplasm
Myomatous neoplasm 		0.020 GeneticVariation disease BEFREE Hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839) is the predisposition to develop smooth muscle tumours of the skin and uterus and/or renal cancer and is associated with mutations in the fumarate hydratase gene (FH). 15937070 2006
CUI: C0282606
Disease: Myomatous neoplasm
Myomatous neoplasm 		0.020 GeneticVariation disease BEFREE We have recently shown that germline mutations in the fumarate hydratase (FH) gene located on 1q43 cause smooth muscle tumours and renal cell carcinoma. 12664059 2003