SSPN, sarcospan, 8082

N. diseases: 31; N. variants: 16
Disease: Ventricular Septal Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.010 GeneticVariation group BEFREE Subendocardial myofibers normally run in parallel along the left ventricular outflow tract, but in the Nkx2-5<sup>+/-</sup>/Sspn<sup>KO</sup> mutant they commonly deviate into the septum even in the absence of a muscular VSD. 28406175 2017