Gene: KMT2A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.310 GeneticVariation disease ORPHANET Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. 28120103 2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.310 GeneticVariation disease BEFREE Extensive clinical evaluation and WES of 32 Turkish patients clinically diagnosed with CdLS revealed the presence of a de novo heterozygous nonsense KMT2A mutation in 1 patient without characteristic WDSTS features. 25574841 2015