TCOF1, treacle ribosome biogenesis factor 1, 6949

N. diseases: 138; N. variants: 30
Disease: Congenital small ears ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. 9736782 1998
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease HPO