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 Biomarker disease BEFREE The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. 31079897 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease GENOMICS_ENGLAND The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. 31079897 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease HPO
CUI: C0023418
Disease: leukemia
leukemia 		0.320 AlteredExpression disease BEFREE MLL5 expression independently predicted prognosis in cytogenetically normal AML patients (n = 268; OS: HR, 0.53; 95% CI, 0.33 to 086; P = .011; RFS: HR, 0.61; 95% CI, 0.38 to 0.99; P = .05) and in patients with core-binding factor leukemias (n = 81; OS: HR, 0.12; 95% CI, 0.02 to 0.91; P = .04; RFS: HR, 0.18; 95% CI, 0.04 to 0.77; P = .02). 21205756 2011
CUI: C0023418
Disease: leukemia
leukemia 		0.320 Biomarker disease CTD_human MLL5 contributes to hematopoietic stem cell fitness and homeostasis. 18818388 2009
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: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.310 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia 		0.310 Biomarker disease CTD_human Human MLL5 is located on chromosome 7q22, which frequently is deleted in myeloid leukemias, suggesting a possible role in hemopoiesis. 18854576 2009
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia 		0.310 Biomarker disease LHGDN In a search for candidate myeloid leukemia tumor suppressor genes from a approximately 2.5 Mb commonly-deleted segment within chromosome band 7q22, we identified a novel human Trithorax (Trx) family member named MLL5. 12101424 2002
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker disease GENOMICS_ENGLAND Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. 31079897 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype GENOMICS_ENGLAND Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. 31079897 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. 31079897 2019
CUI: C4025874
Disease: Abnormality of skull size
Abnormality of skull size 		0.300 Biomarker phenotype GENOMICS_ENGLAND Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. 31079897 2019
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		0.300 Biomarker disease GENOMICS_ENGLAND Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. 31079897 2019
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic 		0.300 Biomarker disease CTD_human Loss of MLL5 results in pleiotropic hematopoietic defects, reduced neutrophil immune function, and extreme sensitivity to DNA demethylation. 18854576 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND
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: 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: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 GeneticVariation disease CLINVAR
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO