KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
Disease: Kabuki make-up syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555044700
rs1555044700
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0796004
Disease:
Kabuki make-up syndrome 		A 0.700 CausalMutation CLINVAR Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. 29255178 2017