Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Connective Tissue Diseases
CUI: C0009782
Disease: Connective Tissue Diseases
0.010 GeneticVariation BEFREE We identified the homozygous nonsense variant c.917dup, p.Tyr306* in AEBP1 using clinical exome sequencing in a female individual with previously unsolved CTD. 30548383 2019