EPM2A, EPM2A glucan phosphatase, laforin, 7957

N. diseases: 87; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 Biomarker phenotype BEFREE The term "MELF-pattern myometrial invasion" (MELF pattern) denotes an unusual morphology of myometrial invasion in endometrioid carcinomas, and is associated with frequent lymphovascular invasion and lymph node metastasis. 28277316 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 Biomarker phenotype BEFREE The study was limited to cases with previous central pathology review focusing on histotype, depth of myometrial invasion, presence of lymphovascular space invasion (LVSI) and MELF pattern of invasion. 27695947 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 Biomarker phenotype BEFREE S100A4 accelerates the proliferation and invasion of endometrioid carcinoma and is associated with the "MELF" pattern. 27348205 2016