Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker GENOMICS_ENGLAND The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. 31079897

2019