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 Biomarker disease BEFREE MECT1, TORC1, or WAMTP1) to the Notch coactivator MAML2 is a characteristic feature of low-grade mucoepidermoid carcinomas of salivary and bronchial glands. 17334997 2007
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE Taken together, the present and previous observations indicate that the CRTC1-MAML2 fusion is etiologically linked to benign and low-grade malignant tumors originating from diverse exocrine glands rather than being linked to a separate tumor entity. 17334997 2007
CUI: C2718092
Disease: Acrospiroma
Acrospiroma 		0.030 Biomarker disease BEFREE Our findings thus demonstrate that the CRTC1-MAML2 gene fusion is frequent in hidradenomas and is associated with clear cell variants of this tumor. 17334997 2007
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.020 Biomarker disease BEFREE RT-PCR and sequencing revealed that exon 7 of MLL was fused to exon 2 of MAML2 in the AML and MDS cells. 17551948 2007
CUI: C0026277
Disease: Mixed Salivary Gland Tumor
Mixed Salivary Gland Tumor 		0.020 GeneticVariation disease BEFREE Specific chromosomal translocations are recognized in pleomorphic adenoma (with translocation involving PLGA1 or HMGA2 gene) and mucoepidermoid carcinoma (with MECT1-MAML2 gene fusion). 17539914 2007
CUI: C0206671
Disease: Eccrine acrospiroma
Eccrine acrospiroma 		0.020 Biomarker disease BEFREE MLL-MAML2 in secondary AML/MDS and MECT1-MAML2 in mucoepithelioid carcinoma, benign Wartin's tumor, and clear cell hidradenoma consist of the same COOH-terminal part of MAML2. 17551948 2007
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 Biomarker phenotype BEFREE MAML2 involving a chimeric gene might contribute to carcinogenesis in multiple neoplasms by the disruption of NOTCH signaling. 17551948 2007
CUI: C1370701
Disease: Clear cell hidradenoma
Clear cell hidradenoma 		0.020 Biomarker disease BEFREE MLL-MAML2 in secondary AML/MDS and MECT1-MAML2 in mucoepithelioid carcinoma, benign Wartin's tumor, and clear cell hidradenoma consist of the same COOH-terminal part of MAML2. 17551948 2007
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.010 Biomarker disease BEFREE RT-PCR and sequencing revealed that exon 7 of MLL was fused to exon 2 of MAML2 in the AML and MDS cells. 17551948 2007
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia 		0.010 Biomarker disease BEFREE MLL-MAML2 in secondary AML/MDS and MECT1-MAML2 in mucoepithelioid carcinoma, benign Wartin's tumor, and clear cell hidradenoma consist of the same COOH-terminal part of MAML2. 17551948 2007
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 AlteredExpression disease BEFREE We analyzed the presence of a balanced t(11;19)(q21; p12~p13.11) and the MECT1-MAML2 fusion transcript in a 9-year-old girl with mucoepidermoid lung carcinoma using conventional cytogenetics, fluorescence in-situ hybridization, spectral karyotyping, high-resolution multicolor banding, and reverse transcriptase-polymerase chain reaction. 17618868 2007
CUI: C1708778
Disease: mucoepidermoid carcinoma of lung
mucoepidermoid carcinoma of lung 		0.010 AlteredExpression disease BEFREE t(11;19)(q21;p12~p13.11) and MECT1-MAML2 fusion transcript expression as a prognostic marker in infantile lung mucoepidermoid carcinoma. 17618868 2007
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		0.010 Biomarker disease BEFREE Identification of a novel fusion gene MLL-MAML2 in secondary acute myelogenous leukemia and myelodysplastic syndrome with inv(11)(q21q23). 17551948 2007
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 Biomarker group BEFREE MLL-MAML2 in secondary AML/MDS and MECT1-MAML2 in mucoepithelioid carcinoma, benign Wartin's tumor, and clear cell hidradenoma consist of the same COOH-terminal part of MAML2. 17551948 2007
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		0.010 Biomarker disease BEFREE Identification of a novel fusion gene MLL-MAML2 in secondary acute myelogenous leukemia and myelodysplastic syndrome with inv(11)(q21q23). 17551948 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE The t(11;19) translocation and its CRTC1/MAML2 fusion transcript have been identified in several examples of both Warthin's tumor and mucoepidermoid carcinoma and are believed to be associated with the development of a subset of these tumors. 18181164 2008
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma 		0.100 GeneticVariation disease LHGDN A closer look at Warthin tumors and the t(11;19). 18206539 2008
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma 		0.100 Biomarker disease BEFREE The t(11;19) translocation and its CRTC1/MAML2 fusion transcript have been identified in several examples of both Warthin's tumor and mucoepidermoid carcinoma and are believed to be associated with the development of a subset of these tumors. 18181164 2008
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma 		0.100 Biomarker disease BEFREE Both gene fusions seem to result in an identical tumor phenotype and the fusion genes CRTC1-MAML2 and CRTC3-MAML2 may play a similar role in the development of mucoepidermoid carcinomas. 18050304 2008
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma 		0.100 Biomarker disease LHGDN Both gene fusions seem to result in an identical tumor phenotype and the fusion genes CRTC1-MAML2 and CRTC3-MAML2 may play a similar role in the development of mucoepidermoid carcinomas. 18050304 2008
CUI: C0001429
Disease: Adenolymphoma
Adenolymphoma 		0.060 Biomarker disease BEFREE The t(11;19) translocation and its CRTC1/MAML2 fusion transcript have been identified in several examples of both Warthin's tumor and mucoepidermoid carcinoma and are believed to be associated with the development of a subset of these tumors. 18181164 2008
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C3714758
Disease: Juvenile psoriatic arthritis
Juvenile psoriatic arthritis 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009
CUI: C4552091
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Negative
Polyarthritis, Juvenile, Rheumatoid Factor Negative 		0.300 Biomarker disease CTD_human Gene expression signatures in polyarticular juvenile idiopathic arthritis demonstrate disease heterogeneity and offer a molecular classification of disease subsets. 19565504 2009