rs587783685, KMT2D

N. diseases: 5
Disease: Kabuki make-up syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Kabuki make-up syndrome
CUI: C0796004
Disease: Kabuki make-up syndrome
0.700 CausalMutation CLINVAR Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. 28295206 2017
Kabuki make-up syndrome
CUI: C0796004
Disease: Kabuki make-up syndrome
0.700 CausalMutation CLINVAR Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. 27302555 2016
Kabuki make-up syndrome
CUI: C0796004
Disease: Kabuki make-up syndrome
0.700 CausalMutation CLINVAR The strong association of left-side heart anomalies with Kabuki syndrome. 26300940 2015
Kabuki make-up syndrome
CUI: C0796004
Disease: Kabuki make-up syndrome
0.700 CausalMutation CLINVAR MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. 23320472 2013