Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123744
rs398123744
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		C 0.700 CausalMutation CLINVAR Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. 27302555

2016
dbSNP: rs398123744
rs398123744
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		C 0.700 CausalMutation CLINVAR Kabuki syndrome: clinical and molecular characteristics. 26512256

2015
dbSNP: rs398123744
rs398123744
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		C 0.700 CausalMutation CLINVAR Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. 24633898

2014
dbSNP: rs398123744
rs398123744
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		C 0.700 GeneticVariation CLINVAR