Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265246
Disease: Townes syndrome
Townes syndrome
0.510 GermlineCausalMutation disease ORPHANET Together, these findings suggest that the DACT1 c.1256G>A nonsense variant is causative of a specific genetic syndrome with features overlapping Townes-Brocks syndrome. 28054444 2017
CUI: C0265246
Disease: Townes syndrome
Townes syndrome
0.510 GeneticVariation disease BEFREE Together, these findings suggest that the DACT1 c.1256G>A nonsense variant is causative of a specific genetic syndrome with features overlapping Townes-Brocks syndrome. 28054444 2017
CUI: C0265246
Disease: Townes syndrome
Townes syndrome
0.510 Biomarker disease CTD_human