SEMA3A, semaphorin 3A, 10371

N. diseases: 202; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302142
Disease: Deformity
Deformity
0.010 Biomarker group BEFREE Although we postulated that the non-synonymous SEMA3A variants which we found in CHD7-negative CHARGE patients alone are not sufficient to produce the phenotype, we suggest an important modifier role for SEMA3A in the pathogenesis of this multiple malformation syndrome. 24728844 2014