Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
0.130 GeneticVariation disease BEFREE A SNP in TGFBR2 was found to be associated with term patent ductus arteriosus in both populations after we corrected for multiple comparisons. 27344223 2016
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
0.130 GeneticVariation disease BEFREE We describe two novel mutations in TGFBR2 leading to LDS; PDA is common in our patients and can be safely occluded via transcatheter procedure. 24146167 2014
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
0.130 GeneticVariation disease BEFREE Genetic linkage analysis was performed for seven genes or loci implicated in familial TAA/AD disease (COL3A1, FBN1, 3p24-25 or MFS2/TAAD2, 5q13-q14 and 11q23.2-q24), Char syndrome (TFAP2B) or autosomal recessive PDA (12q24). 14722581 2004
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
0.130 Biomarker disease HPO