Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1388523736
rs1388523736
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 GeneticVariation UNIPROT Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. 24739679

2014
dbSNP: rs1388523736
rs1388523736
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 GeneticVariation UNIPROT MLL2 and KDM6A mutations in patients with Kabuki syndrome. 23913813

2013
dbSNP: rs1388523736
rs1388523736
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 GeneticVariation UNIPROT MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. 23320472

2013
dbSNP: rs1388523736
rs1388523736
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 GeneticVariation UNIPROT How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. 22126750

2012
dbSNP: rs1388523736
rs1388523736
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 GeneticVariation UNIPROT MLL2 mutation spectrum in 45 patients with Kabuki syndrome. 21280141

2011
dbSNP: rs1388523736
rs1388523736
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 GeneticVariation UNIPROT Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. 21671394

2011
dbSNP: rs1388523736
rs1388523736
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 GeneticVariation UNIPROT A mutation screen in patients with Kabuki syndrome. 21607748

2011
dbSNP: rs1388523736
rs1388523736
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 GeneticVariation UNIPROT Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. 21658225

2011
dbSNP: rs1388523736
rs1388523736
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 GeneticVariation UNIPROT Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. 20711175

2010