SEMA3C, semaphorin 3C, 10512

N. diseases: 71; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019569
Disease: Hirschsprung Disease
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
CUI: C0019569
Disease: Hirschsprung Disease
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
CUI: C0019569
Disease: Hirschsprung Disease
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
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.420 Biomarker disease HPO
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
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
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		0.300 Biomarker disease CTD_human ENU induced mutations causing congenital cardiovascular anomalies. 15548583 2004
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE SEMA3C depletion inhibited tumor growth <i>in vitro</i>. 31649890 2019
CUI: C0027651
Disease: Neoplasms
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
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Lowering SEMA3C levels shifts the balance toward detachment, triggering NB cells to collectively evade the tumor. 29017055 2017
CUI: C0027651
Disease: Neoplasms
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
CUI: C0428883
Disease: Diastolic blood pressure
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
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Higher SEMA3C expression is correlated with tumour differentiation. 26977026 2016
CUI: C0392885
Disease: High density lipoprotein measurement
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
CUI: C0027651
Disease: Neoplasms
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
CUI: C0027651
Disease: Neoplasms
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
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Full-Length Semaphorin-3C Is an Inhibitor of Tumor Lymphangiogenesis and Metastasis. 25808871 2015
CUI: C0027651
Disease: Neoplasms
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
CUI: C0027651
Disease: Neoplasms
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
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0021843
Disease: Intestinal Obstruction
Intestinal Obstruction 		0.100 Biomarker disease HPO