DLL3, delta like canonical Notch ligand 3, 10683

N. diseases: 134; N. variants: 9
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		0.520 GeneticVariation disease BEFREE We have previously identified mutations in the Delta-like 3 (DLL3) gene as a major cause of autosomal recessive spondylocostal dysostosis. 15122512 2004
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		0.520 Biomarker disease BEFREE As all three mutations predict truncation of the DLL3 protein and loss of the membrane-attaching domain, the results confirm that autosomal recessive spondylocostal dysostosis represents the null phenotype of DLL3, with remarkable phenotypic consistency across families. 12791036 2003
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		0.520 Biomarker disease MGD Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm. 11923214 2002
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		0.520 Biomarker disease CTD_human