Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Split-Hand-Foot Malformation With Sensorineural Hearing Loss
0.300 Biomarker disease GENOMICS_ENGLAND A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1. 28611547 2017