Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10413
Gene Symbol: YAP1
YAP1
0.300 Biomarker disease CTD_human Mono (2-ethylhexyl) phthalate (MEHP) triggers the proliferation of hemangioma-derived endothelial cells via YAP signals. 31351048 2019
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.300 Biomarker disease CTD_human Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. 22057234 2011
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.300 Biomarker disease CTD_human Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. 22057234 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.300 Biomarker disease CTD_human Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. 9286463 1997
Entrez Id: 2353
Gene Symbol: FOS
FOS
0.030 AlteredExpression disease BEFREE All cases of cutaneous cellular EH (n=16) showed strong diffuse immunohistochemical expression of FOS-B, in conjunction with positivity for ERG and nestin. 29266025 2019
Entrez Id: 2354
Gene Symbol: FOSB
FOSB
0.030 Biomarker disease BEFREE FOSB immunohistochemistry is sensitive in the diagnosis of EH-ALHE, and allows differentiation from its histological mimics. 29527734 2018
Entrez Id: 2354
Gene Symbol: FOSB
FOSB
0.030 Biomarker disease BEFREE Diffuse nuclear immunoreactivity for FOSB (>50% of cells) was observed in 48 of 50 (96%) pseudomyogenic hemangioendotheliomas and 13 of 24 (54%) epithelioid hemangiomas (including all angiolymphoid hyperplasia with eosinophilia type). 28009608 2017
Entrez Id: 2353
Gene Symbol: FOS
FOS
0.030 Biomarker disease BEFREE Our work reveals that FOS stimulates endothelial sprouting and that perturbation of normal FOS degradation could account for the abnormal vessel growth typical of epithelioid hemangioma. 29150442 2017
Entrez Id: 2353
Gene Symbol: FOS
FOS
0.030 GeneticVariation disease BEFREE On the basis of a novel FOS-LMNA gene fusion identified by RNA sequencing in an index case of a skeletal EH with typical morphology, we sought to investigate the prevalence of FOS rearrangement in a large cohort of EHs. 26135557 2015
Entrez Id: 2354
Gene Symbol: FOSB
FOSB
0.030 Biomarker disease BEFREE Although FOSB-rearranged EH do not show significant morphologic overlap with SERPINE1-FOSB fusion-positive pseudomyogenic hemangioendothelioma, FOSB oncogenic activation is emerging as an important event in these benign and intermediate groups of vascular tumors. 25043949 2014
Entrez Id: 7538
Gene Symbol: ZFP36
ZFP36
0.020 GeneticVariation disease BEFREE Although a small subset of EHs with atypical features harbor ZFP36-FOSB fusions, no additional genetic abnormalities have been found to date in the remaining cases. 26135557 2015
Entrez Id: 7538
Gene Symbol: ZFP36
ZFP36
0.020 Biomarker disease BEFREE ZFP36-FOSB fusion defines a subset of epithelioid hemangioma with atypical features. 25043949 2014
Entrez Id: 2108
Gene Symbol: ETFA
ETFA
0.010 Biomarker disease BEFREE CT-guided bone biopsy of ilium indicated that puncture tissue had irregular hyperplasia of thick and thin-walled blood vessels, immunohistochemistry revealed positive staining for CD31 and CD34, negative for CAMTA-1, PCK and EMA, which confirmed the diagnosis of multiple EH. 31770261 2019
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
0.010 Biomarker disease BEFREE CT-guided bone biopsy of ilium indicated that puncture tissue had irregular hyperplasia of thick and thin-walled blood vessels, immunohistochemistry revealed positive staining for CD31 and CD34, negative for CAMTA-1, PCK and EMA, which confirmed the diagnosis of multiple EH. 31770261 2019
Entrez Id: 2078
Gene Symbol: ERG
ERG
0.010 AlteredExpression disease BEFREE All cases of cutaneous cellular EH (n=16) showed strong diffuse immunohistochemical expression of FOS-B, in conjunction with positivity for ERG and nestin. 29266025 2019
Entrez Id: 221981
Gene Symbol: THSD7A
THSD7A
0.010 AlteredExpression disease BEFREE We found that plump endothelial cells in ALHE modestly expressed THSD7A in both cases. 30554801 2019
Entrez Id: 10763
Gene Symbol: NES
NES
0.010 AlteredExpression disease BEFREE All cases of cutaneous cellular EH (n=16) showed strong diffuse immunohistochemical expression of FOS-B, in conjunction with positivity for ERG and nestin. 29266025 2019
Entrez Id: 6608
Gene Symbol: SMO
SMO
0.010 GeneticVariation disease BEFREE Deleterious variants TP53 c.707T>C (p.Tyr236Cys), FLT3 c.1995C>T (p.Met665Ile), and SMO c.1919C>T (p.Thr640Ile) were detected in EH, while AS revealed deleterious variant PTPN11 c.226G>A (p.Glu76Lys). 29206716 2018
Entrez Id: 2322
Gene Symbol: FLT3
FLT3
0.010 GeneticVariation disease BEFREE Deleterious variants TP53 c.707T>C (p.Tyr236Cys), FLT3 c.1995C>T (p.Met665Ile), and SMO c.1919C>T (p.Thr640Ile) were detected in EH, while AS revealed deleterious variant PTPN11 c.226G>A (p.Glu76Lys). 29206716 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.010 GeneticVariation disease BEFREE On the basis of a novel FOS-LMNA gene fusion identified by RNA sequencing in an index case of a skeletal EH with typical morphology, we sought to investigate the prevalence of FOS rearrangement in a large cohort of EHs. 26135557 2015
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
0.010 Biomarker disease BEFREE Although FOSB-rearranged EH do not show significant morphologic overlap with SERPINE1-FOSB fusion-positive pseudomyogenic hemangioendothelioma, FOSB oncogenic activation is emerging as an important event in these benign and intermediate groups of vascular tumors. 25043949 2014
Entrez Id: 3965
Gene Symbol: LGALS9
LGALS9
0.010 AlteredExpression disease BEFREE We assessed the expression of galectin-9 with imunostaining and in situ hybridization both in the lesion of angiolymphoid hyperplasia with eosinophilia, and peripheral blood eosinophils of eosinophilic patients (E-Eos) in comparison with those of normal volunteers (N-Eos). 12037400 2002
Entrez Id: 6962
Gene Symbol: TRBV20OR9-2
TRBV20OR9-2
0.010 Biomarker disease BEFREE We performed polymerase chain reaction (PCR)-based analysis to determine whether HHV-8 is present and heteroduplex analysis of rearranged T-cell receptor (TCR) gene for clonality assessment in paraffin-embedded skin biopsy samples of 7 ALHE and 2 Kimura's disease, taken from immunocompetent patients. 11437942 2001