Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.110 GeneticVariation disease BEFREE The phenotypic similarity and the segregation analysis suggest that FBXL3 biallelic, LoF variants link this gene with syndromic autosomal recessive developmental delay/intellectual disability. 30481285 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.110 Biomarker disease HPO