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 GENOMICS_ENGLAND

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

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

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

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

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

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 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 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 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 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 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 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 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 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 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 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 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 GeneticVariation BEFREE Final resolution of the genetic basis of the phenotypic variability in SGBS must await cloning and mutation analysis of the SGBS gene(s). 8599356

1995

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 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 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 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 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 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