SEMA3C, semaphorin 3C, 10512

N. diseases: 71; N. variants: 4
Disease: Hirschsprung Disease ×
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