Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		0.800 Biomarker CTD_human

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.600 Biomarker CTD_human This transcriptomics-based characterization and chemical interrogation of human MLL-rearranged AML was a valuable approach for identifying complementary features that define this disease. 26237430

2015
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.600 Biomarker CTD_human In this study, we have identified a fusion partner of MLL in a 10-year-old female who developed therapy-related acute myeloid leukemia 17 months after treatment for Hodgkin's disease. 10339604

1999
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.400 Biomarker CTD_human In contrast to infant cases, MLL-R leukemia in older children had more somatic mutations (mean of 6.5 mutations/case versus 1.3 mutations/case, P = 7.15 × 10(-5)) and had frequent mutations (45%) in epigenetic regulators, a category of genes that, with the exception of MLL, was rarely mutated in infant MLL-R ALL. 25730765

2015
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.400 Biomarker CTD_human The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias. 25730765

2015
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.400 Biomarker CTD_human MLL fusion-driven activation of CDK6 potentiates proliferation in MLL-rearranged infant ALL. 24736461

2014
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.400 Biomarker CTD_human Acute lymphoblastic leukemia in infants (< 1 year-of-age) is characterized by a high incidence of MLL rearrangements. 24736461

2014
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0023448
Disease: Lymphoid leukemia
Lymphoid leukemia 		0.400 Biomarker CTD_human Modeling the initiation and progression of human acute leukemia in mice. 17463288

2007
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia 		0.400 Biomarker CTD_human Modeling the initiation and progression of human acute leukemia in mice. 17463288

2007
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0023418
Disease: leukemia
leukemia 		0.400 Biomarker CTD_human A single case is described of congenital leukaemia with 11q23/MLL rearrangement in a preterm female newborn. 12937054

2003
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0023418
Disease: leukemia
leukemia 		0.400 Biomarker CTD_human MLL translocations specify a distinct gene expression profile that distinguishes a unique leukemia. 11731795

2002
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.400 Biomarker CTD_human Molecular rearrangements of the MLL gene are present in most cases of infant acute myeloid leukemia and are strongly correlated with monocytic or myelomonocytic phenotypes. 8282816

1994
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia 		0.400 Biomarker CTD_human Molecular rearrangements of the MLL gene are present in most cases of infant acute myeloid leukemia and are strongly correlated with monocytic or myelomonocytic phenotypes. 8282816

1994
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia 		0.400 Biomarker CTD_human Molecular rearrangements of the MLL gene are present in most cases of infant acute myeloid leukemia and are strongly correlated with monocytic or myelomonocytic phenotypes. 8282816

1994
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.370 Biomarker CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475

2018
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.360 Biomarker CTD_human Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. 22634756

2012
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.330 Biomarker CTD_human Frequent mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) also occurred in 47% of the gastric cancers. 22484628

2012
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		0.320 Biomarker CTD_human The transcriptomic landscape and directed chemical interrogation of MLL-rearranged acute myeloid leukemias. 26237430

2015
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		0.320 Biomarker CTD_human The transcriptomic landscape and directed chemical interrogation of MLL-rearranged acute myeloid leukemias. 26237430

2015
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		0.320 Biomarker CTD_human MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25). 10339604

1999
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		0.320 Biomarker CTD_human MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25). 10339604

1999
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.310 Biomarker CTD_human Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder. 21822268

2011
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.310 Biomarker CTD_human Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder. 21822268

2011
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C2930974
Disease: Acute erythroleukemia
Acute erythroleukemia 		0.300 Biomarker CTD_human Genomic subtyping and therapeutic targeting of acute erythroleukemia. 30926971

2019
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C2930975
Disease: Acute erythroleukemia - M6a subtype
Acute erythroleukemia - M6a subtype 		0.300 Biomarker CTD_human Genomic subtyping and therapeutic targeting of acute erythroleukemia. 30926971

2019