KMT2D, lysine methyltransferase 2D, 8085

N. diseases: 320; N. variants: 266
Disease: Primary malignant neoplasm ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs867537050
rs867537050
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE Subsequent analysis, focused on the latter variant class most likely to be involved in cancer predisposition, revealed two variants of prime interest, namely MSH2 c.2732T>A (p.L911R) and BRCA1 c.2955delC, the first of which is novel. 26092435 2015