Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 207
Gene Symbol: AKT1
AKT1
0.180 AlteredExpression disease BEFREE The expression of AKT, mTOR and proliferating cell nuclear antigen (PCNA) proteins was evaluated using semi-quantitative immunohistochemistry in biopsy samples in different phases of HA. 23298485 2013
Entrez Id: 207
Gene Symbol: AKT1
AKT1
0.180 Biomarker disease HPO
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
0.140 GeneticVariation disease BEFREE Overall, the cherry hemangiomas and cherry hemangioma-like hemangiomas had equal GNA mutation rates (82%), and GNA14 and GNAQ mutations were present in approximately half of cherry hemangiomas and cherry hemangioma-like hemangiomas, respectively.All mutations were mutually exclusive. 31189994 2019
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
0.140 GeneticVariation disease BEFREE Variants of GNAQ resulting in p.Q209 are characteristic for circumscribed choroidal hemangiomas. 31336681 2019
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
0.140 GeneticVariation disease BEFREE GNAQ mutations occur in both diffuse and solitary hemangiomas, although at distinct codons. 30537484 2019
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
0.140 GeneticVariation disease BEFREE Recurrent GNAQ mutations in anastomosing hemangiomas. 28084343 2017
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
0.140 CausalMutation disease CLINVAR
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.130 GeneticVariation disease BEFREE Unique association of non-functioning pheochromocytoma, ganglioneuroma, adrenal cortical adenoma, hepatic and vertebral hemangiomas in a patient with a new intronic variant in the VHL gene. 16483185 2005
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.130 GeneticVariation disease BEFREE Abnormal retinal vascular leakage suggests the possible effects of overexpressed vascular permeability factors such as vascular endothelial growth factor from hemangiomas associated with defective VHL gene. 12644949 2003
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.130 GeneticVariation disease BEFREE Genetic analysis of the angioma showed allelic deletion of the VHL gene locus, suggesting that the origin of the angiomas was directly related to the patient's underlying VHL disease. 10379614 1999
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.130 Biomarker disease HPO
Entrez Id: 2324
Gene Symbol: FLT4
FLT4
0.120 Biomarker disease BEFREE Analysis with quantitative real-time PCR and gene-specific assays showed higher expression of neuropilin-2 (NRP2) and VEGF-receptor-3 (VEGFR-3) mRNAs in vascular malformations (VascM) as compared to infantile hemangiomas (Hem). 22961441 2013
Entrez Id: 2324
Gene Symbol: FLT4
FLT4
0.120 GeneticVariation disease BEFREE Mutations were found in two of the 15 hemangioma specimens: a missense mutation (P1147S) in the kinase domain of the VEGFR2 (FLK1/KDR) gene in one specimen and a missense mutation (P954S) in the kinase insert of the VEGFR3 (FLT4) gene in another specimen. 11807987 2002
Entrez Id: 2324
Gene Symbol: FLT4
FLT4
0.120 Biomarker disease HPO
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.110 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: 2260
Gene Symbol: FGFR1
FGFR1
0.110 AlteredExpression disease BEFREE Many studies have confirmed that basic fibroblast growth factor (bFGF) and its key receptor FGFR1 are highly expressed in hemangioma. 28928430 2017
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
0.110 AlteredExpression disease BEFREE Notably, GLI2 was even overexpressed in involuting hemangiomas if they showed an aggressive growth pattern. 28370639 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.110 AlteredExpression disease BEFREE The expression of AKT, mTOR and proliferating cell nuclear antigen (PCNA) proteins was evaluated using semi-quantitative immunohistochemistry in biopsy samples in different phases of HA. 23298485 2013
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.110 GeneticVariation disease LHGDN Although ectodermal abnormalities have been described in all individuals with this condition, features such as ichthyosis and hemangioma have been previously found only in those patients carrying a mutation in BRAF, and not in KRAS. 17551339 2007
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.110 CausalMutation disease CLINVAR
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.110 Biomarker disease HPO
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
0.110 Biomarker disease HPO
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.110 Biomarker disease HPO
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.110 Biomarker disease HPO
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.100 AlteredExpression disease BEFREE To study the clinicoepidemiological profile of infantile hemangiomas, to estimate and compare the serum levels of VEGF in infantile hemangiomas and controls, and to determine correlations between serum levels of VEGF and growth characteristics of infantile hemangiomas. 29469063 2019