Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.420 AlteredExpression disease BEFREE Furthermore, MEG3 was verified to act as a sponge of miR-494 in HAs cells, and miR-494 counteracted MEG3-caused anti-proliferative effects by regulating PTEN/PI3K/AKT pathway, and exhibited the negative correlation with MEG3 and PTEN expression in proliferating phase HAs. 30562741 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.420 GeneticVariation disease BEFREE Germline PTEN mutations cause 85% of Cowden syndrome (CS), characterized by a high risk of breast and thyroid cancers, and 65% of Bannayan-Riley-Ruvalcaba syndrome (BRRS), characterized by lipomatosis, hemangiomas and speckled penis. 17405772 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.420 Biomarker disease CTD_human Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. 9286463 1997
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.420 CausalMutation disease CLINVAR
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.420 Biomarker disease HPO
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.360 Biomarker disease BEFREE Mutation analyses including Sanger sequencing of genes involving in enchondromatosis and the metabolic pathway of D-2-hydroxyglutarate including PTHR1, D2HGDH, HOT, and IDH1, as well as whole-exome sequencing for proband-parent trio analysis and paired blood versus hemangioma studies showed no pathogenic variants. 29744569 2018
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.360 GeneticVariation disease BEFREE A somatic mutation in IDH1 was detected in hemangioma and leukemic cells. 28544751 2017
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.360 GeneticVariation disease BEFREE Both leukemic cells and hemangioma had the same gene mutations: an insertion frameshift c.863_864insTCTG (p.W288 fs) in the nucleophosmin (NPM1) gene and a missense mutation c.392_395GTCG > CTCT (p.G131_R132 > AL) in the IDH1 gene. 26508204 2015
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.360 GeneticVariation disease BEFREE None of the known pathogenic mutations in the whole IDH1 or IDH2 genes was found in the patient's hemangioma sample. 26123062 2015
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.360 GeneticVariation disease BEFREE R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations. 23485734 2013
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.360 GeneticVariation disease BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 2011
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
0.360 Biomarker disease CTD_human We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 2011
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.340 GeneticVariation disease BEFREE Maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 (IDH1 or IDH2) mutations and is characterized by multiple enchondromas along with hemangiomas. 28544751 2017
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.340 GeneticVariation disease BEFREE Somatic mutations of the isocitrate dehydrogenase (IDH) gene have been detected in enchondroma and hemangioma tissue from patients with Maffucci syndrome. 26508204 2015
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.340 Biomarker disease BEFREE None of the known pathogenic mutations in the whole IDH1 or IDH2 genes was found in the patient's hemangioma sample. 26123062 2015
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.340 GeneticVariation disease BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 2011
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
0.340 Biomarker disease CTD_human We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 2011
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: 207
Gene Symbol: AKT1
AKT1
0.180 AlteredExpression disease BEFREE In conclusion, propranolol inhibited proliferation and induced apoptosis of HemECs via Akt pathway by down-regulating Ang-2 expression, which contributes to our understanding on the pathogenesis of hemangioma and promotes the development of therapeutic approaches for hemangioma. 31838054 2020
Entrez Id: 207
Gene Symbol: AKT1
AKT1
0.180 AlteredExpression disease BEFREE Using real-time PCR, the level of AKT1 was much higher in hemangioma group, whereas level of AKT3 was much lower in the hemangioma group, and in general expression level of ATK was upregulated in the hemangioma group. 31074018 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1
0.180 Biomarker disease BEFREE In conclusion, knockdown of ID-1 suppressed proliferation and promoted apoptosis by inactivating phosphatidylinositol 3-kinase (PI3K)/Akt/mTOR signaling in HDECs, shedding light on the function of ID-1 in HA progression and highlighting the therapeutic value of ID-1 for HA. 30584986 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1
0.180 AlteredExpression disease BEFREE Furthermore, MEG3 was verified to act as a sponge of miR-494 in HAs cells, and miR-494 counteracted MEG3-caused anti-proliferative effects by regulating PTEN/PI3K/AKT pathway, and exhibited the negative correlation with MEG3 and PTEN expression in proliferating phase HAs. 30562741 2018
Entrez Id: 207
Gene Symbol: AKT1
AKT1
0.180 AlteredExpression disease BEFREE Taken together, our findings demonstrate that HMGB1 may be implicated in the formation of HA through upregulation of AKT pathway, and represent a potential therapeutic target for treating HA. 28337869 2017
Entrez Id: 207
Gene Symbol: AKT1
AKT1
0.180 Biomarker disease BEFREE Disruption and inactivation of the PP2A complex promotes the proliferation and angiogenesis of hemangioma endothelial cells through activating AKT and ERK. 26308070 2015
Entrez Id: 207
Gene Symbol: AKT1
AKT1
0.180 Biomarker disease BEFREE Using immunohistochemistry assay, we examined the expression levels of VEGF, VEGFR2, Ki-67, glucose transporter-1 (Glut-1), phosphorylated protein kinase B (p-AKT) and p-ERK in different phases of human HAs. 24704994 2014