KMT2C, lysine methyltransferase 2C, 58508

N. diseases: 114; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker group GENOMICS_ENGLAND Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. 29069077 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker group BEFREE Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. 29069077 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker group GENOMICS_ENGLAND Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker group HPO