Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.010 AlteredExpression disease BEFREE SGBS adipocytes showed increased levels of β-actin and HSP60 after 96 h of glucose restriction. 26759119 2016
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
0.020 Biomarker disease BEFREE Conditioned medium from omental adipose tissue exposed to a combination of macrophage- and T-cell stimuli inhibited insulin action and adiponectin secretion in SGBS adipocytes. 28769120 2017
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
0.020 AlteredExpression disease BEFREE Collagen beta (1-<i>O</i>) galactosyltransferase 1 (GLT25D1) was knocked down in HEK cells modified for the stable expression of adiponectin (adiponectin expressing human embryonic kidney cells, Adipo-HEK) as well as in Simpson Golabi-Behmel-Syndrome (SGBS) adipocytes. 28428430 2017
Entrez Id: 174
Gene Symbol: AFP
AFP
0.010 Biomarker disease BEFREE Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein. 7520583 1994
Entrez Id: 8862
Gene Symbol: APLN
APLN
0.010 AlteredExpression disease BEFREE Induction of hypoxia significantly induced mRNA expression of leptin and apelin in differentiated SGBS adipocytes compared with the normoxic control condition. 21448846 2011
Entrez Id: 23066
Gene Symbol: CAND2
CAND2
0.010 AlteredExpression disease BEFREE The expression of CAND2 was significantly downregulated after the differentiation of human Simpson-Golabi-Behmel syndrome (SGBS) preadipocyte cells (P = 0.0241). 29717274 2019
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
0.020 AlteredExpression disease BEFREE Transfection of miR-146a mimics prevented the MacCM-induced inflammatory response in SGBS adipocytes as seen by reduced levels of IL-8 and MCP-1 mRNA and protein. 27922090 2016
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
0.020 AlteredExpression disease BEFREE IL-29 upregulated IL-1β, IL-8, and monocyte chemoattractant protein-1 (MCP-1) expression and decreased glucose uptake and insulin sensitivity in human Simpson-Golabi-Behmel syndrome (SGBS) adipocytes through reducing glucose transporter 4 (GLUT4) and AKT signals. 31363171 2019
Entrez Id: 960
Gene Symbol: CD44
CD44
0.010 GeneticVariation disease BEFREE Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth disorder recently shown to be caused by mutations in the heparan sulfate proteoglycan GPC3 [Pilia et al., Nat Genet; 12:241-247 1996]. 8958336 1996
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
0.010 GeneticVariation disease BEFREE A phenotypically related X-linked overgrowth syndrome, Simpson Golabi Behmel syndrome (SGBS), is caused by alterations in glypican-3 (GPC3), a molecule that may interact with the gene products identified to be important in generating the BWS phenotype, that is, IGF2 and p57KIP2. 9630066 1998
Entrez Id: 79709
Gene Symbol: COLGALT1
COLGALT1
0.010 AlteredExpression disease BEFREE Collagen beta (1-<i>O</i>) galactosyltransferase 1 (GLT25D1) was knocked down in HEK cells modified for the stable expression of adiponectin (adiponectin expressing human embryonic kidney cells, Adipo-HEK) as well as in Simpson Golabi-Behmel-Syndrome (SGBS) adipocytes. 28428430 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.010 GeneticVariation disease BEFREE Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. 24459012 2014
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
0.020 AlteredExpression disease BEFREE IL-29 upregulated IL-1β, IL-8, and monocyte chemoattractant protein-1 (MCP-1) expression and decreased glucose uptake and insulin sensitivity in human Simpson-Golabi-Behmel syndrome (SGBS) adipocytes through reducing glucose transporter 4 (GLUT4) and AKT signals. 31363171 2019
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
0.020 AlteredExpression disease BEFREE Transfection of miR-146a mimics prevented the MacCM-induced inflammatory response in SGBS adipocytes as seen by reduced levels of IL-8 and MCP-1 mRNA and protein. 27922090 2016
Entrez Id: 2246
Gene Symbol: FGF1
FGF1
0.010 Biomarker disease BEFREE We previously reported that fibroblast growth factor-1 (FGF-1) primes primary human preadipocytes and Simpson Golabi Behmel syndrome (SGBS) preadipocytes and increases adipogenesis through a cascade involving extracellular signal-related kinase 1/2 (ERK1/2). 22187378 2012
Entrez Id: 79068
Gene Symbol: FTO
FTO
0.020 AlteredExpression disease BEFREE We assessed FTO mRNA expression during human adipocyte differentiation of Simpson-Golabi-Behmel syndrome (SGBS) cells and primary subcutaneous preadipocytes in vitro and evaluated the effect of the metabolic regulators glucose, insulin, dexamethasone, IGF-1 and isoproterenol on FTO and NAMPT mRNA expression in SGBS preadipocytes and adipocytes. 21687707 2011
Entrez Id: 79068
Gene Symbol: FTO
FTO
0.020 Biomarker disease BEFREE Here we report that SGBS cells, which are comparable to subcutaneous adipose-derived stem cells, carry an FTO risk allele. 30967578 2019
Entrez Id: 2690
Gene Symbol: GHR
GHR
0.010 AlteredExpression disease BEFREE We then characterized the dose-dependent effects of these factors on GHR expression in HEK293 cells and in mature human SGBS (Simpson-Golabi-Behmel syndrome) adipocytes using quantitative reverse transcriptase-PCR and assessed the function of their putative REs by luciferase-reporter assays, site-directed mutagenesis and chromatin immunoprecipitation (ChIP) assays. 21386799 2011
Entrez Id: 2817
Gene Symbol: GPC1
GPC1
0.010 GeneticVariation disease BEFREE Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. 10814714 2000
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
1.000 Biomarker disease BEFREE The tight clustering of GPC3 and GPC4, with deletions that occasionally affect both genes, may be relevant for explaining the variability of the SGBS phenotype. 9787072 1998
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
1.000 GeneticVariation disease BEFREE Specifically, mutations in both the murine GPC3 gene and the Drosophila glypican, dally, have been found to modify cellular responses to bone morphogenetic proteins, providing important clues to the molecular basis of SGBS in humans. 11286501 2001
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
1.000 GeneticVariation disease BEFREE Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked multiple congenital anomalies and overgrowth syndrome caused by a defect in the glypican-3 gene (GPC3). 29637653 2018
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
1.000 AlteredExpression disease BEFREE Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome. 9853964 1998
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
1.000 GeneticVariation disease BEFREE PCR analysis using primer pairs which amplify fragments from each of the eight exons of the GPC3 gene was carried out in a series of 18 families with SGBS (approximately half of reported cases). 9192268 1997
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
1.000 GeneticVariation disease BEFREE Only one SGBS1 family has been reported with duplication of both GPC3 and GPC4. 30048822 2019