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 Biomarker 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
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation 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
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 AlteredExpression BEFREE Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome. 9853964

1998

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation 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
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 Biomarker BEFREE However, there is still no biochemical evidence indicating that GPC3 plays such a role.Here, we report that GPC3-deficient mice exhibit several of the clinical features observed in SGBS patients, including developmental overgrowth, perinatal death, cystic and dyplastic kidneys, and abnormal lung development. 10402475

1999

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 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 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 GeneticVariation BEFREE The lack of correlation between the phenotype of 18 affected males from these 7 families and the location and size of the GPC3 gene mutations suggest that SGBS is caused by a nonfunctional GPC3 protein. 8958336

1996

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

2003

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 We report a Japanese patient with SGBS who had a single base deletion in the exon 7 of the GPC3 gene. 10496077

1999

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE We reviewed the clinical findings of all published patients with SGBS1 with GPC3 mutations to confirm the clinical specificity for the SGBS1 phenotype. 12713262

2003

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 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 Biomarker BEFREE GPC3 encodes a glypican integral membrane protein and is mutated in the Simpson-Golabi-Behmel syndrome. 10029067

1999

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 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 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 Glypican-3 (GPC3) is a membrane-bound heparan sulfate proteoglycan that is mutated in the Simpson-Golabi-Behmel syndrome. 11704870

2001

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE It has recently been shown that the OCI-5/GPC3 gene is mutated in patients with the Simpson-Golabi-Behmel Syndrome (SGBS), an X-linked disorder characterized by pre- and postnatal overgrowth and various visceral and skeletal dysmorphisms. 9628896

1998

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