KMT2B, lysine methyltransferase 2B, 9757

N. diseases: 193; N. variants: 24
Disease: KLEEFSTRA SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		0.010 GeneticVariation disease BEFREE The KMT2B recessive variant is the first report of recessive Kleefstra syndrome-like phenotype. 25405613 2014