Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Coagulation factor deficiency syndrome
0.010 GeneticVariation BEFREE More recently, missense mutations in the GGCX gene, either in compound heterozygous state or digenic with a recurrent ABCC6 nonsense mutation (p.R1141X), have been identified in patients with PXE-like cutaneous findings and vitamin K-dependent coagulation factor deficiency. 19054062 2009