Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 GeneticVariation disease BEFREE Examination of the CRTC1/3-MAML2 fusion gene showed no relation between SRCC of primary unknown with metastasis to the cervical lymph node and MEC of the parotid gland. 30954307 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 GeneticVariation phenotype BEFREE Examination of the CRTC1/3-MAML2 fusion gene showed no relation between SRCC of primary unknown with metastasis to the cervical lymph node and MEC of the parotid gland. 30954307 2020
CUI: C0017638
Disease: Glioma
Glioma
0.110 GeneticVariation disease BEFREE MAML2 rs7938889 and rs485842 polymorphisms were associated with the reduced risk of glioma (OR = 0.69, P=0.023; and OR = 0.81, P=0.032, respectively). 31652449 2019
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation disease GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 GeneticVariation disease BEFREE Salivary gland MEC are most frequently associated with CRTC1-MAML2 translocations. 30380176 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 GeneticVariation disease BEFREE Bronchial Mucoepidermoid Carcinoma With the Classic MAML2 Gene Rearrangement in a 2-year-old Boy. 28492094 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 GeneticVariation disease BEFREE Articles that assessed the association between the CRTC1-MAML2 translocation and survival of MEC patients were selected for the systematic review. 31661572 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE Rearrangement of mastermind like transcriptional coactivator 2 (MAML2) (11q21) gene was shown to be present in tumor cells by fluorescence in situ hybridization, supporting the diagnosis of a low-grade Warthin-like mucoepidermoid carcinoma. 31177170 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 AlteredExpression disease BEFREE Gefitinib represses JAK-STAT signaling activated by CRTC1-MAML2 fusion in mucoepidermoid carcinoma cells. 30605061 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE The aims of this study were to determine the prognostic significance of MEC grading systems and MAML2 rearrangement status. 31021855 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE CRTC1-MAML2 fusion is often detected in low- or intermediate-grade salivary mucoepidermoid carcinoma (MEC), and it is associated with a favorable clinical course. 31351495 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.020 GeneticVariation group BEFREE Our results lend further support to the observation that the KMT2A-MAML2 fusion gene resulting from inv(11)(q21q23) is likely a recurrent cytogenetic abnormality in T-t-ALL and appears to be associated with pediatric cases. 31343482 2019
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: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE An excellent prognosis may be achieved without PORT in T1/2N0M0 mucoepidermoid carcinoma patients positive for CRTC1/3-MAML2 fusions when the tumors are completely resected without tumor spillage. 30475407 2018
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 GeneticVariation disease BEFREE We present 2 variants of MEC for which MAML2 studies were crucial in establishing a diagnosis: a previously undescribed ciliated variant, and the recently described Warthin-like variant. 28877061 2018
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE CRTC1/3-MAML2 fusion gene is a characteristic molecular feature of MEC of the salivary gland. 30138216 2018
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE Tumor categories as described by the World Health Organization reflect, in part, a true genetic heterogeneity (e.g., translocations involving CRTC1 and CRTC3-MAML2 genes in mucoepidermoid carcinoma and MYB-NFIB fusion in adenoid cystic carcinoma). 28930752 2018
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 GeneticVariation disease BEFREE The CRTC1-MAML2 fusion gene resulting from a t(11;19)(q21;p13) translocation, is now known to be a feature of both low-grade and high-grade mucoepidermoid carcinomas associated with improved survival. 29076877 2018