KMT2D, lysine methyltransferase 2D, 8085

N. diseases: 320; N. variants: 266
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: rs1555185217
rs1555185217
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		0.800 GeneticVariation UNIPROT Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. 24739679 2014
dbSNP: rs1555185217
rs1555185217
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		0.800 GeneticVariation UNIPROT MLL2 and KDM6A mutations in patients with Kabuki syndrome. 23913813 2013
dbSNP: rs1555185217
rs1555185217
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		0.800 GeneticVariation UNIPROT MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. 23320472 2013
dbSNP: rs1555185217
rs1555185217
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		0.800 GeneticVariation UNIPROT How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. 22126750 2012
dbSNP: rs1555185217
rs1555185217
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		0.800 GeneticVariation UNIPROT A mutation screen in patients with Kabuki syndrome. 21607748 2011
dbSNP: rs1555185217
rs1555185217
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		0.800 GeneticVariation UNIPROT MLL2 mutation spectrum in 45 patients with Kabuki syndrome. 21280141 2011
dbSNP: rs1555185217
rs1555185217
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		0.800 GeneticVariation UNIPROT Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. 21671394 2011
dbSNP: rs1555185217
rs1555185217
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		0.800 GeneticVariation UNIPROT Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. 21658225 2011
dbSNP: rs1555185217
rs1555185217
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		0.800 GeneticVariation UNIPROT Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. 20711175 2010
dbSNP: rs1555185217
rs1555185217
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		T 0.800 CausalMutation CLINVAR