Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268689
Disease: Vitamin D-dependent rickets, type 1
Vitamin D-dependent rickets, type 1
0.010 GeneticVariation disease BEFREE Structure-function analysis of CYP27B1 and CYP27A1. Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xanthomatosis (CTX). 11737215 2001