rs1057519279, KMT2B

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DYSTONIA 28, CHILDHOOD-ONSET
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
0.700 GeneticVariation CLINVAR Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. 27839873 2016
DYSTONIA 28, CHILDHOOD-ONSET
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
0.700 CausalMutation CLINVAR
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
0.010 GeneticVariation BEFREE Whole-exome-sequencing-based exploration of a further 30 German-Austrian individuals with early-onset generalized dystonia uncovered another three deleterious mutations in KMT2B-one de novo nonsense mutation (c.1633C>T [p.Arg545<sup>∗</sup>]), one de novo essential splice-site mutation (c.7050-2A>G [p.Phe2321Serfs<sup>∗</sup>93]), and one inherited nonsense mutation (c.2428C>T [p.Gln810<sup>∗</sup>]) co-segregating with dystonia in a three-generation kindred. 27839873 2016
Dystonia
CUI: C0013421
Disease: Dystonia
0.010 GeneticVariation BEFREE Whole-exome-sequencing-based exploration of a further 30 German-Austrian individuals with early-onset generalized dystonia uncovered another three deleterious mutations in KMT2B-one de novo nonsense mutation (c.1633C>T [p.Arg545<sup>∗</sup>]), one de novo essential splice-site mutation (c.7050-2A>G [p.Phe2321Serfs<sup>∗</sup>93]), and one inherited nonsense mutation (c.2428C>T [p.Gln810<sup>∗</sup>]) co-segregating with dystonia in a three-generation kindred. 27839873 2016