Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5
0.010 GeneticVariation disease BEFREE Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. 18485326 2008