Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.020 GeneticVariation disease BEFREE The aim of our study was to investigate the association of SNPs in CYP27A1, CYP24A1, and RXR- α genes, vitamin D status, and MS risk. 30088172 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.020 GeneticVariation disease BEFREE Four different mutations were identified in CYP27A1, including a reported pathogenic mutation for cerebrotendinous xanthomatosis (p.R405W), which was observed in six patients from a multi-incident family, three diagnosed with MS, two with an undefined neurological disease and one seemingly healthy. 28337550 2017