Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CORNELIA DE LANGE SYNDROME 4
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
0.800 GeneticVariation UNIPROT RAD21 mutations cause a human cohesinopathy. 22633399 2012
CORNELIA DE LANGE SYNDROME 4
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
0.800 CausalMutation CLINVAR RAD21 mutations cause a human cohesinopathy. 22633399 2012