Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.320 GeneticVariation disease BEFREE Recently, KMT2B variants have been recognized as an important cause of childhood-onset dystonia. 31216378 2019
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.320 GeneticVariation disease BEFREE Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. 27992417 2017
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.320 Biomarker disease CTD_human