Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE Only one SGBS1 family has been reported with duplication of both GPC3 and GPC4. 30048822

2019

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is caused by mutations in GPC3 or in both GPC3 and GPC4. 31651874

2019

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE Loss of function mutations in <i>GPC3</i> lead to Simpson-Golabi-Behmel Syndrome, an X-linked overgrowth condition with a predisposition to GPC3-expressing cancers including hepatoblastoma and Wilms tumor. 30873384

2019

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation 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
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE Nonisolated CDH in a male fetus suggests a diagnosis of SGBS type I. Fetal autopsy, pedigree analysis, and genetic testing for GPC3 are all essential to confirming the diagnosis. 29240237

2018

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 Biomarker CLINGEN Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. 29637653

2018

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome. 28371070

2017

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE We report on four fetuses from two unrelated families, in whom the application of whole exome sequencing and array-CGH allowed the identification of GPC3 alterations causing SGBS. 27612164

2016

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE Mutations of the GPC3 gene are responsible for Simpson-Golabi-Behmel syndrome, which is characterized by anomalies of postnatal overgrowth and an increased risk of developing pediatric malignancies, mostly Wilms tumor and liver cancer. 25366870

2015

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE Here, we report a boy with Simpson-Golabi-Behmel syndrome who had a germline loss-of function mutation in GPC3. 24459012

2014

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE Simpson-Golabi-Behmel syndrome type 1 (SGBS1) -OMIM 312870- is a rare X-linked inherited overgrowth syndrome caused by a loss of function mutation in the GPC3 gene. 24357529

2014

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE Individuals with loss-of-function mutations for the glypican 3 gene exhibit Simpson-Golabi-Behmel syndrome, a rare X-linked overgrowth disorder. 25299314

2014

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE In the genetics laboratory in Tours Hospital, GPC3 molecular testing over more than a decade has detected pathogenic mutations in only 8.7% of individuals with SGBS. 23606591

2013

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. 23463737

2013

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. 22807161

2012

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE We identified three siblings with typical SGBS (two male and one female cases) and their mother with very mild symptoms in a family carrying c.256C>T (p.Arg86X) mutation in GPC3. 20950395

2011

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review. 21362501

2011

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 Biomarker 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: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE The involvement of glypicans in developmental morphogenesis and growth regulation has been highlighted by Drosophila mutants and by a human overgrowth syndrome with multiple malformations caused by glypican 3 mutations (Simpson-Golabi-Behmel syndrome). 19481194

2009

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 Biomarker MGD Loss of glypican-3 function causes growth factor-dependent defects in cardiac and coronary vascular development. 19733558

2009

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. 17603795

2007

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26. 17549790

2007

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 Biomarker GENOMICS_ENGLAND Germinal mosaicism in Simpson-Golabi-Behmel syndrome. 17850639

2007

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE The Simpson-Golabi-Behmel syndrome (SGBS) (OMIM 312870) is an overgrowth/multiple congenital anomalies syndrome caused by a semi-dominant X-linked gene encoding glypican 3 (GPC3). 16158429

2005

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 Biomarker MGD Loss of function mutations in the gene encoding the heparan sulfate proteoglycan Glypican-3 (GPC3) causes an X-linked disorder in humans known as Simpson-Golabi-Behmel Syndrome (SGBS). 15936336

2005