Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
0.110 Biomarker disease HPO
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
0.110 Biomarker disease BEFREE A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole-exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. 28054444 2017