Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit
0.010 GeneticVariation phenotype BEFREE Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement. 27470653 2016