Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. 28295206

2017

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922

2017

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. 27991736

2017

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. 28256057

2017

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Pilomatricoma Associated with Kabuki Syndrome. 27778401

2017

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889

2017

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited. 26898171

2016

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR A novel KMT2D mutation resulting in Kabuki syndrome: A case report. 27573763

2016

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. 26194542

2016

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Kabuki syndrome as a cause of non-immune fetal hydrops/ascites. 27568880

2016

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 25972376

2015

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia. 26049589

2015

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. 23320472

2013

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Multiple pilomatricomas in Kabuki syndrome. 22304445

2013

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. 22126750

2012

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR MLL2 mutation spectrum in 45 patients with Kabuki syndrome. 21280141

2011

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. 21658225

2011

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. 21671394

2011

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. 20711175

2010

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Identification of the MLL2 complex as a coactivator for estrogen receptor alpha. 16603732

2006

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Hepatic fibrosis in Kabuki syndrome. 14699623

2004

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins. 12482968

2003

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. 14608645

2003

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features. 9285441

1997

dbSNP: rs1555184787
rs1555184787
TG 0.700 CausalMutation CLINVAR Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. 3067577

1988