KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
Disease: Congenital hypoplasia of kidney ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		0.010 GeneticVariation disease BEFREE In this study, we have identified a de novo mutation in KMT2A associated with psychomotor developmental delay, facial dysmorphism, short stature, hypertrichosis cubiti, and small kidneys. 25929198 2015