Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital ear anomaly NOS (disorder)
0.110 Biomarker group HPO
Congenital ear anomaly NOS (disorder)
0.110 Biomarker group 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