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: rs398123724
rs398123724
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		A 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: rs398123724
rs398123724
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		A 0.800 GeneticVariation CLINVAR Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 25972376 2015
dbSNP: rs398123724
rs398123724
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		A 0.800 CausalMutation CLINVAR Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 25972376 2015
dbSNP: rs398123724
rs398123724
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		A 0.800 CausalMutation CLINVAR MLL2 and KDM6A mutations in patients with Kabuki syndrome. 23913813 2013
dbSNP: rs398123724
rs398123724
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		A 0.800 CausalMutation CLINVAR How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. 22126750 2012
dbSNP: rs398123724
rs398123724
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		A 0.800 CausalMutation CLINVAR Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. 21671394 2011
dbSNP: rs398123724
rs398123724
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		A 0.800 CausalMutation CLINVAR Further evidence of dominant inheritance of Kabuki syndrome. 19625956 2009
dbSNP: rs398123724
rs398123724
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease:
Kabuki make-up syndrome 		0.800 GeneticVariation UNIPROT