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 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 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 Biomarker MGD In Gpc3/DeltaH19 double mutants (lacking GPC3 and also carrying a deletion around the H19 gene region that causes bialellic expression of the closely linked Igf2 gene by imprint relaxation), the Gpc3-null phenotype was exacerbated, while additional SGBS1 features (omphalocele and skeletal defects) were manifested. 11846487

2002

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 Biomarker CLINGEN In Gpc3/DeltaH19 double mutants (lacking GPC3 and also carrying a deletion around the H19 gene region that causes bialellic expression of the closely linked Igf2 gene by imprint relaxation), the Gpc3-null phenotype was exacerbated, while additional SGBS1 features (omphalocele and skeletal defects) were manifested. 11846487

2002

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 Biomarker MGD Glypican-3 modulates BMP- and FGF-mediated effects during renal branching morphogenesis. 11180950

2001

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 Direct sequencing of all GPC3 exons in the remaining 13 SGBS patients without GPC3 deletions did not identify any further mutations, raising the possibility of alternative silencing mechanisms and/or other genes in the pathogenesis of SGBS. 11477610

2001

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 Biomarker GENOMICS_ENGLAND Six SGBS patients showed point mutations in GPC3. 10814714

2000

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GermlineCausalMutation ORPHANET Six SGBS patients showed point mutations in GPC3. 10814714

2000

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 Biomarker CLINGEN Six SGBS patients showed point mutations in GPC3. 10814714

2000

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation BEFREE Deletions and translocations involving the glypican-3 gene ( GPC3 ) have been shown to be associated with SGBS. 10814714

2000

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 GeneticVariation UNIPROT Six SGBS patients showed point mutations in GPC3. 10814714

2000

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 Biomarker MGD This previously unknown link between glypican-3 and BMP4 function provides evidence of a role for glypicans in vertebrate limb patterning and skeletal development and suggests a mechanism for the skeletal defects seen in SGBS. 10964473

2000

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 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 Biomarker CLINGEN 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 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 Biomarker BEFREE These results demonstrate that neither the GPC3 gene nor other genes on Xq26 are responsible for all cases of SGBS and that a second SGBS locus resides on Xp22. 10441586

1999

Entrez Id: 2719
Gene Symbol: GPC3
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
1.000 Biomarker MGD 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 Biomarker BEFREE Furthermore, our finding of a GPC3 normal daughter of an SGBS carrier with skeletal abnormalities and Wilms tumour raises the possibility of a trans effect from the maternal carrier in SGBS kindreds. 9950367

1999

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 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 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 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