Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886043497
rs886043497
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.800 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922

2017
dbSNP: rs886043497
rs886043497
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.800 CausalMutation CLINVAR Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. 27302555

2016
dbSNP: rs886043497
rs886043497
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.800 CausalMutation CLINVAR Speech and language in a genotyped cohort of individuals with Kabuki syndrome. 25755104

2015
dbSNP: rs886043497
rs886043497
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.800 CausalMutation CLINVAR MLL2 and KDM6A mutations in patients with Kabuki syndrome. 23913813

2013
dbSNP: rs886043497
rs886043497
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		T 0.800 CausalMutation CLINVAR A mutation screen in patients with Kabuki syndrome. 21607748

2011