KMT2D, lysine methyltransferase 2D, 8085

N. diseases: 320; N. variants: 266
Disease: Cleft palate, isolated ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516039
rs1057516039
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C1837218
Disease:
Cleft palate, isolated 		T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016