KMT2D, lysine methyltransferase 2D, 8085

N. diseases: 320; N. variants: 266
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 GeneticVariation disease BEFREE Kabuki syndrome (KS) is commonly caused by mutations in the histone modifying enzyme KMT2D. 31816409 2020
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 GeneticVariation disease BEFREE Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype. 31814321 2020
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 GeneticVariation disease BEFREE Kabuki syndrome (KS) is a disorder of epigenetic dysregulation due to heterozygous mutations in KMT2D or KDM6A, genes encoding a lysine-specific methyltransferase or demethylase, respectively. 31654559 2020
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 GeneticVariation disease BEFREE Using the Xenopus model system we find that Kmt2d loss-of-function recapitulates major features of Kabuki syndrome including severe craniofacial malformations. 31813957 2020
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 GeneticVariation disease BEFREE We identified a de novo, pathogenic KMT2D variant (c.6295C > T; p.R2099X) using trio whole-exome sequencing in a 2-year-old female with lobar holoprosencephaly, microcephaly and cranio-facial features of Kabuki syndrome. 31846209 2020
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.340 AlteredExpression disease BEFREE Clinically, high level of MLL2 was significantly associated with early-stage ESCC lymph node metastasis. 31676369 2020
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.180 Biomarker disease BEFREE A single dose of ch128.1/IgG1 shows significant antitumor activity, not only against early and late stages of disseminated KMS-11 tumors (Asian origin) but also against these stages of disseminated disease following injection of human MM cells MM.1S (African American origin) or its variant that is resistant to dexamethasone MM.1R. 31693515 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 AlteredExpression group BEFREE MLL2 interacts with RelA in the nucleus to enhance transcription of stanniocalcin-1 (STC1) and to facilitate cancer metastasis. 31676369 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Moreover, regardless of cell types and microlocalization, patients with high expressed MLL2 had increased depth invasion of tumor (DOI). 31660637 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Whole exome sequencing (n=22, with paired tumor/germline DNA) and/or targeted deep sequencing (n=24) showed recurrent mutations of epigenetic modifiers in 74% of cases, involving notably KMT2C (26%), KMT2D (9%), CHD2 (15%) and CREBBP (15%). 31774495 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE We previously developed a mouse/human chimeric IgG3 targeting human TfR1 (ch128.1), which exhibits significant antitumor activity against multiple myeloma (MM) in xenograft models of SCID-Beige mice bearing disseminated ARH-77 or KMS-11 tumors. 31693515 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 AlteredExpression group BEFREE MLL2 interacts with RelA in the nucleus to enhance transcription of stanniocalcin-1 (STC1) and to facilitate cancer metastasis. 31676369 2020
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.080 Biomarker group BEFREE Using the Xenopus model system we find that Kmt2d loss-of-function recapitulates major features of Kabuki syndrome including severe craniofacial malformations. 31813957 2020
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		0.080 Biomarker disease BEFREE MLL2 (mixed-lineage leukemia 2) is recognized as an essential role in regulating histone 3 lysine 4 tri-methylation (H3K4me3) in mammalian cells. 31660637 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.060 AlteredExpression phenotype BEFREE MLL2 interacts with RelA in the nucleus to enhance transcription of stanniocalcin-1 (STC1) and to facilitate cancer metastasis. 31676369 2020
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 Biomarker disease BEFREE Tumor-infiltrating lymphocyte-derived MLL2 independently predicts disease-free survival for patients with early-stage oral squamous cell carcinoma. 31660637 2020
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		0.020 GeneticVariation disease BEFREE We detected KMT2D mutations in both cases, a rarely acquired chromatin modifying gene mutation in BL. 31705772 2020
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma 		0.020 GeneticVariation disease BEFREE We detected KMT2D mutations in both cases, a rarely acquired chromatin modifying gene mutation in BL. 31705772 2020
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma 		0.020 GeneticVariation disease BEFREE We detected KMT2D mutations in both cases, a rarely acquired chromatin modifying gene mutation in BL. 31705772 2020
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly 		0.020 GeneticVariation disease BEFREE Recently, the first two cases with alobar holoprosencephaly and mutations in KMT2D have been reported in the medical literature. 31846209 2020
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.020 AlteredExpression disease BEFREE Clinically, high level of MLL2 was significantly associated with early-stage ESCC lymph node metastasis. 31676369 2020
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		0.010 GeneticVariation disease BEFREE We identified a de novo, pathogenic KMT2D variant (c.6295C > T; p.R2099X) using trio whole-exome sequencing in a 2-year-old female with lobar holoprosencephaly, microcephaly and cranio-facial features of Kabuki syndrome. 31846209 2020
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 GeneticVariation disease BEFREE We report a 34-year-old male patient with a novel variant in KMT2D gene, which finally ended a quest for a diagnosis that was clinically suspected in the past, prior the molecular basis of Kabuki Syndrome (KS) was known. 30282051 2019
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 GeneticVariation disease BEFREE Here, we report a patient with features of Kabuki syndrome who carries two rare heterozygous variants in KMT2D: c.12935C>T, p.(Ser4312Phe) and c.15785-10T>G. 31268616 2019
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 GeneticVariation disease BEFREE We analysed 1920 distinct KMT2D MVs that included 1535 germline MVs in controls (Control-MVs), 584 somatic MVs in cancers (Cancer-MVs) and 201 MV in individuals with KS (KS-MVs). 30459467 2019