SEPTIN5, septin 5, 5413

N. diseases: 29; N. variants: 4
Disease: Shprintzen syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.010 Biomarker disease BEFREE Based on the expression pattern as well as clinical data, Cdcrel-1 may be involved in the etiology of VCFS/DGS. 10940632 2000