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 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 CLINVAR Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome. 26321508

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 Individuals with loss-of-function mutations for the glypican 3 gene exhibit Simpson-Golabi-Behmel syndrome, a rare X-linked overgrowth disorder. 25299314

2015

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. 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 Glypican 3 (GPC3), a membrane-bound heparin sulfate proteoglycan, is mutated in Simpson-Golabi-Behmel syndrome, characterized by tissue overgrowth and an increased risk of embryonal malignancies such as Wilms tumor. 23084579

2013

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. 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 Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. 20950395

2012

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

2012

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 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 CausalMutation CLINVAR A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface. 19215053

2009

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 CausalMutation CLINVAR 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

2008

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

2008

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

2008

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 CausalMutation CLINVAR Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. 18203194

2008

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 CausalMutation CLINVAR 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 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 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

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE Glypican-3 (GPC3) encodes a cell-surface heparan-sulfate proteoglycan mutated in type 1 Simpson-Golabi-Behmel syndrome (SGBS1), an X-linked overgrowth syndrome. 12872992

2004