Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2239
Gene Symbol: GPC4
GPC4
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.540 GeneticVariation BEFREE In the family reported by Golabi and Rosen, a duplication of GPC4 was recently identified, suggesting that GPC4 could be the second gene for SGBS but no point mutations within GPC4 have yet been reported. 23606591

2013

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.540 Biomarker BEFREE GPC5 and GPC6 show homology with GPC3 and GPC4, genes involved in Simpson-Golabi-Behmel syndrome, an overgrowth syndrome in which also polydactyly can occur. 19941983

2010

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.540 GeneticVariation BEFREE Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. 10814714

2000

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.540 GeneticVariation BEFREE GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. 9787072

1998

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.540 Biomarker CTD_human

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.540 GeneticVariation ORPHANET

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.410 GeneticVariation BEFREE We have examined the mutational status of the GPC3 and GPC4 genes in one patient with Perlman syndrome, three patients with overgrowth without syndrome diagnosis, ten unrelated SGBS-patients and 11 BWS patients. 10814714

2000

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.410 Biomarker HPO

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.410 Biomarker CTD_human

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
0.300 Biomarker CTD_human A zebrafish screen for craniofacial mutants identifies wdr68 as a highly conserved gene required for endothelin-1 expression. 16759393

2006

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C2930471
Disease: Bilateral Wilms Tumor
Bilateral Wilms Tumor
0.300 Biomarker CTD_human

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.110 GeneticVariation BEFREE This patient shows a complex phenotype, including the unusual feature of hydrocephalus; but because an uncle with SGBS is less affected, it remains unclear whether the GPC4 deletion itself contributes to the phenotype. 9931407

1999

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.110 Biomarker HPO

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.100 Biomarker HPO

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0006384
Disease: Bundle-Branch Block
Bundle-Branch Block
0.100 Biomarker HPO

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
0.100 Biomarker HPO

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 Biomarker HPO

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0011053
Disease: Deafness
Deafness
0.100 Biomarker HPO

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
0.100 Biomarker HPO

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0018772
Disease: Hearing Loss, Partial
Hearing Loss, Partial
0.100 Biomarker HPO

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.100 Biomarker HPO

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.100 Biomarker HPO

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.100 Biomarker HPO

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
0.100 Biomarker HPO

Entrez Id: 2239
Gene Symbol: GPC4
GPC4
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
0.100 Biomarker HPO