TCOF1, treacle ribosome biogenesis factor 1, 6949

N. diseases: 138; N. variants: 30
Disease: Ptosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033377
Disease: Ptosis
Ptosis 		0.110 Biomarker disease BEFREE Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1. 12114479 2002
CUI: C0033377
Disease: Ptosis
Ptosis 		0.110 Biomarker disease HPO