Hirschsprung Disease
|
0.420 |
Biomarker
|
disease |
BEFREE |
Recently, genetic markers within a locus on 7q21.11 containing the SEMA3A, SEMA3C, and SEMA3D genes were reported to be associated with Hirschsprung disease (HSCR).
|
27469503 |
2016 |
Hirschsprung Disease
|
0.420 |
SusceptibilityMutation
|
disease |
ORPHANET |
Thus, semaphorin 3C/3D signaling is an evolutionarily conserved regulator of ENS development whose dys-regulation is a cause of enteric aganglionosis.
|
25839327 |
2015 |
Hirschsprung Disease
|
0.420 |
Biomarker
|
disease |
BEFREE |
To this end, we assessed the performance of the bench-top 454 GS Junior platform as an optimized solution for mutation detection by amplicon sequencing of three type 3 semaphorin genes SEMA3A, SEMA3C, and SEMA3D implicated in Hirschsprung disease (HSCR).
|
21898659 |
2012 |
Hirschsprung Disease
|
0.420 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital Intestinal Aganglionosis
|
0.300 |
SusceptibilityMutation
|
disease |
ORPHANET |
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.
|
25839327 |
2015 |
Truncus Arteriosus, Persistent
|
0.300 |
Biomarker
|
disease |
CTD_human |
ENU induced mutations causing congenital cardiovascular anomalies.
|
15548583 |
2004 |
Red Blood Cell Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
SEMA3C depletion inhibited tumor growth <i>in vitro</i>.
|
31649890 |
2019 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Sema3C protein, a member of the class 3 family of secreted semaphorins, play an important role in tumor development by regulating cell proliferation, migration, invasion, and angiogenesis processes.
|
31726800 |
2019 |
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Lowering SEMA3C levels shifts the balance toward detachment, triggering NB cells to collectively evade the tumor.
|
29017055 |
2017 |
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Overall, our findings demonstrate that aberrant expression of sema3c is correlated with poor prognosis of PDAC patients and promotes tumor growth and metastasis by activating ERK1/2 signaling pathway.
|
28315433 |
2017 |
Diastolic blood pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.
|
27841878 |
2017 |
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Higher SEMA3C expression is correlated with tumour differentiation.
|
26977026 |
2016 |
High density lipoprotein measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels.
|
27036123 |
2016 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
These data suggest that SEMA3C expression is differentially regulated in the development and progression of breast versus oral neoplasia, and that increased expression of SEMA3C may be modulating breast cancer progression and angiogenesis, and could represent a biomarker of metastatic disease.
|
25910410 |
2015 |
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The data presented in this work suggest that the increased levels of Sema3C protein may be associated with the progression of glioma tumor and has a potential as a prognostic marker for outcome of glioma patients.
|
26032848 |
2015 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Full-Length Semaphorin-3C Is an Inhibitor of Tumor Lymphangiogenesis and Metastasis.
|
25808871 |
2015 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Immunostaining of primary tumor indicated the rate of Ki-67 positive carcinoma cells was decreased, whereas that of apoptotic cells was significantly increased in sema3C-silenced tumor.
|
22924992 |
2012 |
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Here, we show that the cleavage of semaphorin 3C induced by ADAMTS1 promotes the migration of breast cancer cells, indicating that the co-expression of these molecules in tumors may contribute to the metastatic program.
|
19915008 |
2010 |
Abdominal Pain
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Constipation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Diarrhea
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Intestinal Obstruction
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|