SEMA6A, semaphorin 6A, 57556

N. diseases: 211; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936777
Disease: Nevo syndrome (disorder)
Nevo syndrome (disorder)
0.010 Biomarker disease BEFREE We conclude that the Nevo syndrome is allelic to and clinically indistinguishable from EDS VIA, and present evidence that increased length at birth and wristdrop, in addition to muscular hypotonia and kyphoscoliosis, should prompt the physician to consider EDS VIA earlier than heretofore. 15666309 2005