KMT2E, lysine methyltransferase 2E, 55904

N. diseases: 65; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation disease CLINVAR
CUI: C0023418
Disease: leukemia
leukemia 		0.320 GeneticVariation disease BEFREE The leukemia cell line RCV-ACV-A carries a heterozygous missense mutation within the PHD domain; however, no mutations within the MLL5 coding region were detected in primary leukemias. 12101424 2002
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.310 GeneticVariation group BEFREE Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. 31079897 2019
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 GeneticVariation disease CLINVAR
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.100 GeneticVariation group GWASCAT Identification of common genetic risk variants for autism spectrum disorder. 30804558 2019
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation disease CLINVAR
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 GeneticVariation disease CLINVAR
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 GeneticVariation disease CLINVAR
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.100 GeneticVariation group CLINVAR
CUI: C0349450
Disease: Soiling
Soiling 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.100 GeneticVariation disease CLINVAR
CUI: C1696701
Disease: Skin-picking
Skin-picking 		0.100 GeneticVariation disease CLINVAR
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1851734
Disease: Metopic ridge
Metopic ridge 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 GeneticVariation disease CLINVAR
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 GeneticVariation group BEFREE The human mixed lineage leukemia-5 (MLL5) gene is frequently deleted in myeloid malignancies. 20439461 2010
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		0.030 GeneticVariation disease BEFREE Mixed Lineage Leukemia 5 (MLL5) Protein Stability Is Cooperatively Regulated by O-GlcNac Transferase (OGT) and Ubiquitin Specific Protease 7 (USP7). 26678539 2015
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.010 GeneticVariation group BEFREE MLL5 is a mammalian trithorax group (trx-G) gene identified within chromosome band 7q22, a frequently deleted element found in cytogenetic aberrations of acute myeloid malignancies. 14718661 2004