GPC1, glypican 1, 2817

N. diseases: 96; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.330 GeneticVariation disease UNIPROT
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
0.320 GeneticVariation disease BEFREE Common variants of GPC1 gene were genetically involved in BA risk. 27373597 2016
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
0.320 GeneticVariation disease BEFREE We observed a statistically significant increase in deletions at 2q37.3 in patients with BA that resulted in deletion of one copy of GPC1, which encodes glypican 1, a heparan sulfate proteoglycan that regulates Hedgehog signaling and inflammation. 23336978 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Remarkably, the enhanced expression of Notum, a conserved feedback antagonist of Wnt, was observed in tumors along with alterations in Glypican-1 and Glypican-3 levels. 26517809 2015
Congenital atresia of extrahepatic bile duct
0.020 GeneticVariation disease BEFREE We observed a statistically significant increase in deletions at 2q37.3 in patients with BA that resulted in deletion of one copy of GPC1, which encodes glypican 1, a heparan sulfate proteoglycan that regulates Hedgehog signaling and inflammation. 23336978 2013
Congenital atresia of extrahepatic bile duct
0.020 GeneticVariation disease BEFREE Common variants of GPC1 gene were genetically involved in BA risk. 27373597 2016
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.010 GeneticVariation disease 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
CUI: C4317043
Disease: Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome
0.010 GeneticVariation phenotype 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
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.330 Biomarker disease BEFREE α3(V) chains are produced in both basal-like and luminal human breast tumours, and its expression levels are tightly coupled with those of glypican-1 across breast cancer types. 28102194 2017
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.100 Biomarker phenotype HPO
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism
0.100 Biomarker disease HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 Biomarker disease HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Anti-GPC1 mAb also inhibited tumor growth of GPC1 positive ESCC patients derived tumor xenograft models. 28445969 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The proportion of cases by tumor type showing staining with glypican-1 and the H-score for each tumor type were evaluated. 29785020 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Treatment of xenografted mice with GPC1-GEM-NPs shows a higher tumor inhibitory effect compared with controls. 31414945 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE In addition, glypican-1 antisense-expressing PANC-1 cells exhibited a significantly reduced ability to form tumors in nude mice in comparison with parental and sham-transfected PANC-1 cells. 10505759 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Paradoxical Role of Glypican-1 in Prostate Cancer Cell and Tumor Growth. 31391540 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE This approach is clinically relevant as a companion test to the already available diagnostic tools, since patients with GPC1-positive exosomes in peripheral blood showed decreased tumor free survival. 31400579 2019
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
0.100 Biomarker phenotype HPO
CUI: C0033774
Disease: Pruritus
Pruritus
0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker phenotype HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
0.100 Biomarker phenotype HPO
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
0.100 Biomarker phenotype HPO
CUI: C0151872
Disease: Prothrombin time increased
Prothrombin time increased
0.100 Biomarker phenotype HPO
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma
0.100 Biomarker disease HPO