Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		0.400 GeneticVariation disease BEFREE Our report provides the first case of intracranial EHE with molecular proof of WWTR1-CAMTA1 gene fusion. 30085199 2018
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		0.400 GeneticVariation disease BEFREE In addition, a recurrent YAP1-TFE3 gene fusion has been identified in WWTR1-CAMTA1 negative epithelioid hemangioendotheliomas. 25680571 2015
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		0.400 GeneticVariation disease BEFREE Conventional epithelioid hemangioendotheliomas (EHE) have a distinctive morphologic appearance and are characterized by a recurrent t(1;3) translocation, resulting in a WWTR1-CAMTA1 fusion gene. 23737213 2013
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		0.400 GeneticVariation disease BEFREE This study confirms the high incidence of WWTR1-CAMTA1 and YAP1-TFE3 rearrangements in EHE and indicates that the staining pattern for TFE3 IHC is critical for specificity. 25817592 2015
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		0.400 GeneticVariation disease BEFREE Interestingly, we observed CAMTA1 gene break-apart in all of the five TFE3-positive EHEs via FISH assays, and four out of the five TFE3-positive EHEs exhibited WWTR1-CAMTA1 gene fusions via RT-PCR. 26840265 2016
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE In 18 patients (15 with WWTR1-CAMTA1 and 3 with YAP1-TFE3) Memorial Sloan Kettering-IMPACT targeted DNA sequencing was performed to identify secondary genetic alterations showing more than half of tumors had a genetic alteration beyond the disease-defining gene fusion. 31537895 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE The translocation t(1;3)(p36.3;q25), resulting in the CAMTA1- WWTR1 fusion product, is the most commonly identified genetic abnormality with this tumor. 29372848 2018
CUI: C0334538
Disease: Epithelioid hemangioendothelioma, malignant
Epithelioid hemangioendothelioma, malignant 		0.100 GeneticVariation disease BEFREE This study confirms the high incidence of WWTR1-CAMTA1 and YAP1-TFE3 rearrangements in EHE and indicates that the staining pattern for TFE3 IHC is critical for specificity. 25817592 2015
CUI: C0334538
Disease: Epithelioid hemangioendothelioma, malignant
Epithelioid hemangioendothelioma, malignant 		0.100 GeneticVariation disease BEFREE Our report provides the first case of intracranial EHE with molecular proof of WWTR1-CAMTA1 gene fusion. 30085199 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 GeneticVariation phenotype BEFREE In this study, we provided evidence that constitutively active TAZ (TAZ-S89A) is a driver for lung tumorigenesis in vivo in mice and formation of lung CSC. 28415606 2017
CUI: C3899665
Disease: Childhood Epithelioid Hemangioendothelioma
Childhood Epithelioid Hemangioendothelioma 		0.090 GeneticVariation disease BEFREE Our report provides the first case of intracranial EHE with molecular proof of WWTR1-CAMTA1 gene fusion. 30085199 2018
CUI: C3900104
Disease: Adult Epithelioid Hemangioendothelioma
Adult Epithelioid Hemangioendothelioma 		0.090 GeneticVariation disease BEFREE Our report provides the first case of intracranial EHE with molecular proof of WWTR1-CAMTA1 gene fusion. 30085199 2018
CUI: C0027668
Disease: Neoplasms, Vascular Tissue
Neoplasms, Vascular Tissue 		0.010 GeneticVariation group BEFREE Thoracic epithelioid malignant vascular tumors: a clinicopathologic study of 52 cases with emphasis on pathologic grading and molecular studies of WWTR1-CAMTA1 fusions. 25353289 2015
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.010 GeneticVariation disease BEFREE We report that combinatorial YAP/TAZ deletion from skeletal lineage cells, using Osterix-Cre, caused an osteogenesis imperfecta-like phenotype with severity dependent on allele dose and greater phenotypic expressivity with homozygous TAZ vs. YAP ablation. 29401582 2018
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 GeneticVariation disease BEFREE Epithelioid Hemangioendothelioma: a Rare Primary Thyroid Tumor with Confirmation of WWTR1 and CAMTA1 Rearrangements. 27026033 2016
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis 		0.010 GeneticVariation disease BEFREE Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis. 19542741 2009
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		0.400 Biomarker disease BEFREE Genetic studies also led to the finding that WWTR1-CAMTA1 fusions are useful diagnostic markers for epithelioid hemangioendotheliomas, which can present as pleural-based masses. 26811225 2016
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		0.400 Biomarker disease BEFREE Characterization of the genetics of EHE is important because targeted therapies toward products of the specific WWTR1-CAMTA1 gene fusion may have an impact in the near future. 28855107 2018
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		0.400 Biomarker disease BEFREE A WWTR1-CAMTA1 fusion is present in most classic epithelioid hemangioendothelioma, regardless of their clinical behavior, suggesting that additional genetic abnormalities might be responsible in driving a more aggressive biology. 31537895 2019
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		0.400 Biomarker disease BEFREE Instead, WWTR1-CAMTA1 and YAP1-TFE3 fusion genes are found in almost all cases of epithelioid haemangioendothelioma. 26050962 2015
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		0.400 Biomarker disease BEFREE The WWTR1 (protein is known as TAZ)-CAMTA1 (WC) fusion gene defines epithelioid hemangioendothelioma, a malignant vascular cancer. 25961935 2016
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		0.400 Biomarker disease BEFREE Thus, we undertook a molecular analysis of six samples from two patients with multicentric hepatic EHE to test our hypothesis that the presence of identical breakpoints in WWTR1 and CAMTA1 support the monoclonal nature of multifocal EHE. 22429593 2012
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		0.400 Biomarker disease BEFREE Fluorescence in situ hybridization analysis showed CAMTA1-WWTR1 fusions in 4/7 low-grade and 23/23 intermediate-grade EHE (P<0.001). 25353289 2015