TCOF1, treacle ribosome biogenesis factor 1, 6949

N. diseases: 138; N. variants: 30
Disease: Congenital Heart Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.110 GeneticVariation group BEFREE Congenital cardiac defects occurred more frequently among patients with TCOF1 mutation (7/92, 8%) than reported in the literature. 25790162 2016
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.110 Biomarker group HPO