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 The P422L and S466L mutations were found in patients suffering premature thrombosis and homocystinuric levels of Hcy but lacking any of the connective tissue disorders typical of homocystinuria due to CBS deficiency. 12007221 2002