SSPN, sarcospan, 8082

N. diseases: 31; N. variants: 16
Disease: Congenital Heart Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.020 Biomarker group BEFREE Many of the identified risk variants fall near genes where more deleterious mutations have been reported to cause serious heart defects in humans (GATA4, MYH6, NKX2-5, PITX2, TBX5)<sup>1</sup>, or near genes important for striated muscle function and integrity (for example, CFL2, MYH7, PKP2, RBM20, SGCG, SSPN). 30061737 2018
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.020 Biomarker group BEFREE Sspn knockout (Sspn<sup>KO</sup>) mice do not have heart defects, but Nkx2-5<sup>+/-</sup>/Sspn<sup>KO</sup> mutants have a higher incidence of muscular VSD than Nkx2-5<sup>+/-</sup> mice. 28406175 2017