Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.030 GeneticVariation disease BEFREE In addition, there were 7 AML and 6 EAML cases harbored P72R mutation (SNP) in exon 4 of p53. 26464702 2015
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.030 GeneticVariation disease BEFREE Here we report the case of a 55-year-old woman with malignant epithelioid angiomyolipoma with p53 gene mutation. 23043633 2012
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.030 GeneticVariation disease BEFREE Malignant epithelioid angiomyolipoma of the kidney in a patient with tuberous sclerosis: an autopsy case report with p53 gene mutation analysis. 18547741 2008
Entrez Id: 7849
Gene Symbol: PAX8
PAX8
0.020 AlteredExpression disease BEFREE Comparison with 5 eAML cases including 2 malignant tumors showed similar morphology and immune reactivity except for more frequent expression of HMB45 and lack of PAX8 positivity. 29885406 2018
Entrez Id: 7849
Gene Symbol: PAX8
PAX8
0.020 GeneticVariation disease BEFREE Labeling for PAX8 distinguishes the t(6;11) RCC from epithelioid angiomyolipoma, which otherwise shares a similar immunoprofile. 24618616 2014
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
0.010 GeneticVariation disease BEFREE Two novel TSC2 mutations in renal epithelioid angiomyolipoma sensitive to everolimus. 31597506 2020
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
0.010 Biomarker disease BEFREE Further analyses focusing on MDM2 pathway could contribute to the identification of novel prognostic factors and/or therapeutic targets in EAML patients. 30799331 2019
Entrez Id: 968
Gene Symbol: CD68
CD68
0.010 Biomarker disease BEFREE Finally, we demonstrate the usefulness of CD68 (PG-M1) immunohistochemical staining in distinguishing t(6;11) renal cell carcinoma from pure epithelioid PEComa/epithelioid angiomyolipoma. 29052596 2018
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
0.010 Biomarker disease BEFREE Herein, we describe a series of six primary and metastatic ESC-RCCs morphologically and immunophenotypically mimicking epithelioid angiomyolipoma (eAML). 29885406 2018
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.010 Biomarker disease BEFREE Hepatic Epithelioid Angiomyolipoma and 18F-FDG PET/CT. 29578870 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.010 GeneticVariation disease BEFREE PCR array for the mRNA alterations in PI3K/Akt/mTOR signaling pathway of EAML showed high expression of PIP3, AKT, TSC1, mTOR, PDK1, P70, 4E-BP1 and elF4E. 28547571 2017
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.010 GeneticVariation disease BEFREE We retrospectively analyze the clinical courses of five EAML, the use of everolimus on metastatic EAML, and next-generation sequencing (NGS) and polymerase chain reaction (PCR) studies to investigate the gene mutation of TSC and the impact of PI3K/Akt/mTOR signaling pathway in metastatic EAML. 28547571 2017
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.010 Biomarker disease BEFREE Sorafenib inhibits multiple kinases including VEGF receptors and has been used to treat metastatic epithelioid angiomyolipoma in one case, but formal trials have not been undertaken. 28092822 2017
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
0.010 GeneticVariation disease BEFREE PCR array for the mRNA alterations in PI3K/Akt/mTOR signaling pathway of EAML showed high expression of PIP3, AKT, TSC1, mTOR, PDK1, P70, 4E-BP1 and elF4E. 28547571 2017
Entrez Id: 54997
Gene Symbol: TESC
TESC
0.010 GeneticVariation disease BEFREE We retrospectively analyze the clinical courses of five EAML, the use of everolimus on metastatic EAML, and next-generation sequencing (NGS) and polymerase chain reaction (PCR) studies to investigate the gene mutation of TSC and the impact of PI3K/Akt/mTOR signaling pathway in metastatic EAML. 28547571 2017
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.010 GeneticVariation disease BEFREE PCR array for the mRNA alterations in PI3K/Akt/mTOR signaling pathway of EAML showed high expression of PIP3, AKT, TSC1, mTOR, PDK1, P70, 4E-BP1 and elF4E. 28547571 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.010 GeneticVariation disease BEFREE We retrospectively analyze the clinical courses of five EAML, the use of everolimus on metastatic EAML, and next-generation sequencing (NGS) and polymerase chain reaction (PCR) studies to investigate the gene mutation of TSC and the impact of PI3K/Akt/mTOR signaling pathway in metastatic EAML. 28547571 2017
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
0.010 GeneticVariation disease BEFREE PCR array for the mRNA alterations in PI3K/Akt/mTOR signaling pathway of EAML showed high expression of PIP3, AKT, TSC1, mTOR, PDK1, P70, 4E-BP1 and elF4E. 28547571 2017
Entrez Id: 7030
Gene Symbol: TFE3
TFE3
0.010 Biomarker disease BEFREE A renal epithelioid angiomyolipoma/perivascular epithelioid cell tumor with TFE3 gene break visualized by FISH. 23224603 2012
Entrez Id: 2315
Gene Symbol: MLANA
MLANA
0.010 Biomarker disease BEFREE Immunohistochemical examination showed epithelioid angiomyolipoma cells that were focally reactive for HMB-45 and showed diffuse positive staining for Melan-A. 18547741 2008