| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Pilomatricoma Associated with Kabuki Syndrome. | 27778401 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. | 27991736 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. | 28256057 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. | 28884889 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. | 28295206 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Congenital heart defects in molecularly proven Kabuki syndrome patients. | 28884922 | 2017 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited. | 26898171 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | A novel KMT2D mutation resulting in Kabuki syndrome: A case report. | 27573763 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. | 26194542 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Kabuki syndrome as a cause of non-immune fetal hydrops/ascites. | 27568880 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. | 25972376 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia. | 26049589 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. | 23320472 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Multiple pilomatricomas in Kabuki syndrome. | 22304445 | 2013 | |||||
Dysmorphic features
|
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 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. | 21658225 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | MLL2 mutation spectrum in 45 patients with Kabuki syndrome. | 21280141 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. | 21671394 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. | 20711175 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Identification of the MLL2 complex as a coactivator for estrogen receptor alpha. | 16603732 | 2006 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Hepatic fibrosis in Kabuki syndrome. | 14699623 | 2004 | |||||
Dysmorphic features
|
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 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. | 14608645 | 2003 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features. | 9285441 | 1997 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. | 3067577 | 1988 |