EDNRA, endothelin receptor type A, 1909

N. diseases: 427; N. variants: 29
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 		0.400 Biomarker disease GENOMICS_ENGLAND Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? 20583178 2010
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		0.400 Biomarker disease HPO