Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.020 Biomarker group BEFREE Together with the finding that mutation of the pancreatic transcription factor HLXB9 causes sacral agenesis, our results implicate pancreatic transcription factors in the pathogenesis of birth defects associated with diabetes. 12738808 2003
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.020 GeneticVariation group BEFREE The homeobox HLXB9 gene, localized at 7q36 has been demonstrated to be involved in sacral agenesis; in fact patients with 7q terminal deletions frequently have this malformation. 12116275 2002