Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
0.010 Biomarker group BEFREE This is the first documented report of an inborn error of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or cataracts and connective tissue disease. 11092761 2000