|
Omodysplasia type 1
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
The proband had normal molecular analysis of the glypican 6 gene (GPC6), which was recently reported as a candidate for autosomal recessive omodysplasia.
|
24458798 |
2014 |
|
Osteoporosis
|
0.330 |
Biomarker
|
disease |
BEFREE |
Overall, tremendous progress in the field of the genetics of osteoporosis has been achieved with the discovery of WNT16, EN1, DAAM2, and GPC6 among others.
|
30980960 |
2019 |
|
Osteoporosis
|
0.330 |
Biomarker
|
disease |
BEFREE |
Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis.
|
28869591 |
2017 |
|
Osteoporosis
|
0.330 |
Biomarker
|
disease |
BEFREE |
Glypican 6, a membrane surface proteoglycan involved in cellular growth control and differentiation, was identified as a novel determinant of BMD and represents a possible drug target for treatment of osteoporosis.
|
29794560 |
2018 |
|
Hernia
|
0.110 |
GeneticVariation
|
phenotype |
BEFREE |
Association of glypican-6 polymorphisms with lumbar disk herniation risk in the Han Chinese population.
|
31111662 |
2019 |
|
NEUROTICISM
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
NKAIN2 showed suggestive evidence of association with neuroticism as a main effect (p < 10(-6)) and GPC6 showed suggestive evidence for interaction with age (p approximately = 10(-7)).
|
20634892 |
2010 |
|
melanoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
The expression levels for 10 of the HIF1α direct targets - GAPDH, PKM, PPAT, DARS, DTWD1, SEH1L, ZNF292, RLF, AGTRAP, and GPC6 - are significantly correlated with reduced time of disease-free status in melanoma by logistic regression (P-value = 0.0013) and ROC curve analysis (AUC = 0.826, P-value < 0.0001).
|
28168807 |
2017 |
|
melanoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
This result suggested that GPC6 was a putative target of miR-509-3p in melanoma.
|
31199813 |
2019 |
|
Omodysplasia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Analyses of gene knockout models and the human conditions of Simpson-Golabi-Behmel syndrome and omodysplasia, which arise from mutations in glypican 3 (GPC3) and GPC6, respectively, highlight both subtle and striking effects of glypicans on bone growth.
|
23297043 |
2013 |
|
Omodysplasia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
|
19481194 |
2009 |
|
Bone Diseases, Developmental
|
0.010 |
Biomarker
|
group |
BEFREE |
Phylogenetic analysis demonstrated that GPC4 is most closely related to GPC6, which is associated with a bone dysplasia that has a phenotypic overlap with Keipert syndrome.
|
30982611 |
2019 |
|
Malignant neoplasm of breast
|
0.010 |
Biomarker
|
disease |
BEFREE |
Thus GPC6 is a novel NFAT target gene in breast cancer cells that promotes invasive migration through Wnt5A signalling.
|
21871017 |
2011 |
|
Malignant Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
External validation by mRNA expression showed a good agreement between hypermethylation in cancer and down-regulated mRNA expression of the genes EDNRB1, GPC6 and SMAD2, and between hypomethylation and up-regulated mRNA expression of the CASP8 and DCLRE1C genes.
|
24811787 |
2014 |
|
Cardiovascular Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
In addition, the microRNA‑17‑92a‑1 cluster host gene and the glypican 6 gene in the 13q31.3 region, as well as EFNB2 and the collagen type IV a1 chain (COL4A1) and COL4A2 genes in the 13q33.1‑q34 region may together contribute to cardiovascular disease development.
|
28393221 |
2017 |
|
Colorectal Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Aberrant methylation of the DCLRE1C and GPC6 genes are presented here for the first time and are therefore of special interest for further validation as novel candidate biomarker genes in CRC, and merit further validation with specific assays.
|
24811787 |
2014 |
|
Neoplasm Metastasis
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
By comparing the gene expression data from primary and cutaneous melanoma samples from The Cancer Genome Atlas (TCGA), we identified GPC6 among a set of genes whose expression levels can distinguish between primary melanoma and regional cutaneous/subcutaneous metastases.
|
31199813 |
2019 |
|
Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
In TCGA melanoma samples, we also showed that GPC6 expression was negatively correlated with miR-509-3p, which has previously been shown to function as a tumor suppressor in various cancer cell lines.
|
31199813 |
2019 |
|
Retinoblastoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The promoter and entire coding region of GPC6 were examined for sequence changes in an extended batch of 29 RB samples.
|
19726429 |
2010 |
|
Metastatic melanoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We showed that GPC6 expression was up-regulated in a melanoma cell line compared to normal melanocytes and in metastatic melanoma compared to primary melanoma.
|
31199813 |
2019 |
|
Epithelial ovarian cancer
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In the larger dataset, GPC6/GPC5 rs17702471 was associated with the endometrioid subtype among Caucasians (odds ratio (OR) = 1.16, 95% CI = 1.07-1.25, P = 0.0003, FDR = 0.19), whereas F8 rs7053448 (OR = 1.69, 95% CI = 1.27-2.24, P = 0.0003, FDR = 0.12), F8 rs7058826 (OR = 1.69, 95% CI = 1.27-2.24, P = 0.0003, FDR = 0.12), and CAPN13 rs1983383 (OR = 0.79, 95% CI = 0.69-0.90, P = 0.0005, FDR = 0.12) were associated with combined invasive EOC among Asians.
|
26399219 |
2015 |
|
Breast Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Thus GPC6 is a novel NFAT target gene in breast cancer cells that promotes invasive migration through Wnt5A signalling.
|
21871017 |
2011 |
|
Sporadic Retinoblastoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Allelic imbalance at 13q31 is associated with reduced GPC6 in Chinese with sporadic retinoblastoma.
|
19726429 |
2010 |
|
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Analyses of gene knockout models and the human conditions of Simpson-Golabi-Behmel syndrome and omodysplasia, which arise from mutations in glypican 3 (GPC3) and GPC6, respectively, highlight both subtle and striking effects of glypicans on bone growth.
|
23297043 |
2013 |
|
Primary malignant neoplasm
|
0.010 |
AlteredExpression
|
group |
BEFREE |
External validation by mRNA expression showed a good agreement between hypermethylation in cancer and down-regulated mRNA expression of the genes EDNRB1, GPC6 and SMAD2, and between hypomethylation and up-regulated mRNA expression of the CASP8 and DCLRE1C genes.
|
24811787 |
2014 |
|
Nasodigitoacoustic syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Phylogenetic analysis demonstrated that GPC4 is most closely related to GPC6, which is associated with a bone dysplasia that has a phenotypic overlap with Keipert syndrome.
|
30982611 |
2019 |