KMT2C, lysine methyltransferase 2C, 58508

N. diseases: 114; N. variants: 11
Disease: KLEEFSTRA SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		0.400 Biomarker disease GENOMICS_ENGLAND Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. 29276005 2018
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		0.400 GeneticVariation disease CLINVAR Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. 29069077 2017
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		0.400 Biomarker disease GENOMICS_ENGLAND Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846 2012
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		0.400 GeneticVariation disease CLINVAR Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846 2012
CUI: C4540395
Disease: KLEEFSTRA SYNDROME 2
KLEEFSTRA SYNDROME 2 		0.400 CausalMutation disease CLINVAR