Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922

2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 GeneticVariation CLINVAR Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. 29255178

2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. 29255178

2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. 28295206

2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. 27302555

2016
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 GeneticVariation CLINVAR Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. 27302555

2016
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 25972376

2015
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR Speech and language in a genotyped cohort of individuals with Kabuki syndrome. 25755104

2015
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 GeneticVariation CLINVAR Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 25972376

2015
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR Kabuki syndrome: clinical and molecular characteristics. 26512256

2015
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR The strong association of left-side heart anomalies with Kabuki syndrome. 26300940

2015
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR Kabuki syndrome (KS) is a multiple congenital anomalies syndrome characterized by characteristic facial features and varying degrees of mental retardation, caused by mutations in KMT2D/MLL2 and KDM6A/UTX genes. 24633898

2014
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in MLL2. 23320472

2013
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR The facial features of patients in the MLL2 truncating-type mutation group were typical based on those of the 10 originally reported patients with Kabuki syndrome; those of the other groups were less typical. 23913813

2013
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 GeneticVariation CLINVAR Our data suggest that nearly all patients with typical KS facial features have pathogenic MLL2 mutations, although KS can be phenotypically variable. 22126750

2012
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR Our data suggest that nearly all patients with typical KS facial features have pathogenic MLL2 mutations, although KS can be phenotypically variable. 22126750

2012
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity. 21607748

2011
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome. 21671394

2011
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR Our data double the number of MLL2 mutations in KS reported so far and widen the spectrum of MLL2 mutations and disease mechanisms in KS. 21280141

2011
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR Our results strongly suggest that mutations in MLL2 are a major cause of Kabuki syndrome. 20711175

2010
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 CausalMutation CLINVAR Further evidence of dominant inheritance of Kabuki syndrome. 19625956

2009