DLL3, delta like canonical Notch ligand 3, 10683

N. diseases: 134; N. variants: 9
Disease: Schwartz-Jampel Syndrome, Type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		0.300 Biomarker disease CTD_human Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. 11146471 2000