Disease: Mandibulofacial Dysostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		0.020 Biomarker disease BEFREE As a result of these studies, mutations within the coding sequence and adjacent splice junctions of HSST can be excluded from a causative role in the pathogenesis of Treacher Collins syndrome. 8838814 1996
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		0.020 Biomarker disease BEFREE Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1. 7601448 1995