Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 GeneticVariation disease BEFREE Inv(11)(q21q23); KMT2A-MAML2, a Recurrent Genetic Abnormality in T-Cell Therapy-related Acute Lymphoblastic Leukemia. 31343482 2019
CUI: C1266065
Disease: Eccrine porocarcinoma
Eccrine porocarcinoma
0.010 Biomarker disease BEFREE Recurrent YAP1-MAML2 and YAP1-NUTM1 fusions in poroma and porocarcinoma. 31145701 2019
Precursor B-cell lymphoblastic leukemia
0.010 AlteredExpression disease BEFREE Here we report T-t-ALL with inv(11)(q21q23), which involves KMT2A and MAML2, a transcriptional coactivator of NOTCH proteins, that occurred after chemotherapy for Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia. 31343482 2019
CUI: C1334813
Disease: Mucoepidermoid Breast Carcinoma
Mucoepidermoid Breast Carcinoma
0.010 Biomarker disease BEFREE CRTC1-MAML2 fusion in mucoepidermoid carcinoma of the breast. 30380176 2019
CUI: C1533161
Disease: Eccrine Poroma
Eccrine Poroma
0.010 Biomarker disease BEFREE Recurrent YAP1-MAML2 and YAP1-NUTM1 fusions in poroma and porocarcinoma. 31145701 2019
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.010 GeneticVariation disease BEFREE Inv(11)(q21q23); KMT2A-MAML2, a Recurrent Genetic Abnormality in T-Cell Therapy-related Acute Lymphoblastic Leukemia. 31343482 2019
CUI: C2717981
Disease: Poroma
Poroma
0.010 Biomarker disease BEFREE Recurrent YAP1-MAML2 and YAP1-NUTM1 fusions in poroma and porocarcinoma. 31145701 2019
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.010 GeneticVariation disease BEFREE Variants in Notch signalling pathway genes, PSEN1 and MAML2, predict overall survival in Chinese patients with epithelial ovarian cancer. 30055028 2018
CUI: C1335299
Disease: Pancreatic Adenosquamous Carcinoma
Pancreatic Adenosquamous Carcinoma
0.010 GeneticVariation disease BEFREE CRTC1/3-MAML2 fusion gene and MAML2 gene rearrangement were not detected in any ASCs including Pan-MECs. 30138216 2018
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 GeneticVariation disease BEFREE Variants in Notch signalling pathway genes, PSEN1 and MAML2, predict overall survival in Chinese patients with epithelial ovarian cancer. 30055028 2018
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
0.010 Biomarker disease BEFREE CRTC1/MAML2 and MYB/NFIB were also analyzed in MEC and adenoid cystic carcinoma cases, respectively. 28139061 2017
CUI: C0019522
Disease: Adenoma, Sweat Gland
Adenoma, Sweat Gland
0.010 Biomarker disease BEFREE We conclude that CRTC1/3-MAML2 fusion gene analysis can be a useful method for diagnosing hidradenoma. 29079171 2017
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 AlteredExpression group BEFREE Reduced expression of sGC, correlating with differential expression of MAML2, in stroke prone and spontaneously hypertensive rats was also seen, and RNA-Seq data demonstrated correlations between JAG1, NOTCH3, MAML2 and FRYL and the sGC subunits GUCY1A3 and GUCY1B3 in human coronary artery. 28465505 2017
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.010 Biomarker disease BEFREE CRTC1/MAML2 was present in 15 out of 17 evaluable MEC cases and MYB/NFIB was identified in the ACC case. 28139061 2017
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell
0.010 Biomarker disease BEFREE Reevaluation of MAML2 fusion-negative mucoepidermoid carcinoma: a subgroup being actually hyalinizing clear cell carcinoma of the salivary gland with EWSR1 translocation. 27769871 2017
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.010 Biomarker disease BEFREE CRTC1/MAML2 was present in 15 out of 17 evaluable MEC cases and MYB/NFIB was identified in the ACC case. 28139061 2017
CUI: C0684354
Disease: Benign neoplasm of sweat gland
Benign neoplasm of sweat gland
0.010 Biomarker disease BEFREE We conclude that CRTC1/3-MAML2 fusion gene analysis can be a useful method for diagnosing hidradenoma. 29079171 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.010 Biomarker group BEFREE Here we report the case of a KMT2A - MAML2 fusion discovered by Next-Generation Sequencing (NGS) analysis in front of an inv11 (q21q23) present in a 47-year-old female previously treated for a sarcoma in 2014, who had a B acute lymphoid leukemia (B ALL). 28535805 2017
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.010 GeneticVariation disease BEFREE One of its rare fusion partners, the mastermind like 2 (MAML2) gene has been reported in four cases of myeloid neoplasms after chemotherapy so far: two acute myeloid leukemias (AML) and two myelodysplasic syndrome (MDS), and two cases of secondary T-cell acute lymphoblastic leukemia (T-ALL). 28535805 2017
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
0.010 GeneticVariation disease BEFREE This multi-institutional study characterizes the clinicopathologic and molecular features of this tumor by utilizing next-generation sequencing to assess common mutations and gene fusions involved in thyroid carcinogenesis as well as fluorescence in-situ hybridization for MAML2 translocations typical of salivary gland mucoepidermoid carcinoma. 27910944 2017
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
0.010 Biomarker group BEFREE Here we report the case of a KMT2A - MAML2 fusion discovered by Next-Generation Sequencing (NGS) analysis in front of an inv11 (q21q23) present in a 47-year-old female previously treated for a sarcoma in 2014, who had a B acute lymphoid leukemia (B ALL). 28535805 2017
CUI: C0025202
Disease: melanoma
melanoma
0.010 Biomarker disease BEFREE Functional Variants in Notch Pathway Genes NCOR2, NCSTN, and MAML2 Predict Survival of Patients with Cutaneous Melanoma. 25953768 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.010 Biomarker disease BEFREE Functional Variants in Notch Pathway Genes NCOR2, NCSTN, and MAML2 Predict Survival of Patients with Cutaneous Melanoma. 25953768 2015
CUI: C0344460
Disease: Carcinoma ex pleomorphic adenoma
Carcinoma ex pleomorphic adenoma
0.010 AlteredExpression disease BEFREE The CRTC1-MAML2 fusion oncoprotein was overexpressed in 2 mucoepidermoid Ca-ex-PAs. 24468654 2014
Pleomorphic adenoma of lacrimal gland
0.010 GeneticVariation disease BEFREE To study genetic alterations in lacrimal gland pleomorphic adenoma (PA) and carcinoma ex pleomorphic adenoma (Ca-ex-PA) with focus on copy number changes and expression patterns of the translocation target genes PLAG1, HMGA2, and CRTC1-MAML2 in relation to clinical data. 24468654 2014