Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555729045
rs1555729045
KMT2B
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. 27992417

2017
dbSNP: rs1555729045
rs1555729045
KMT2B
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A. 27320412

2016
dbSNP: rs1555729045
rs1555729045
KMT2B
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. 27839873

2016
dbSNP: rs1555729045
rs1555729045
KMT2B
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Exome sequencing identifies three novel candidate genes implicated in intellectual disability. 25405613

2014
dbSNP: rs1555729045
rs1555729045
KMT2B
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Histone-methyltransferase MLL2 (KMT2B) is required for memory formation in mice. 23426673

2013
dbSNP: rs1555729045
rs1555729045
KMT2B
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. 21892160

2011
dbSNP: rs1555729045
rs1555729045
KMT2B
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873

2009
dbSNP: rs1555729045
rs1555729045
KMT2B
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Multiple epigenetic maintenance factors implicated by the loss of Mll2 in mouse development. 16540515

2006
dbSNP: rs1555729045
rs1555729045
KMT2B
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR MLL2: A new mammalian member of the trx/MLL family of genes. 10409430

1999