Disease: Vitamin D-dependent rickets ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets 		0.230 GeneticVariation disease BEFREE Vitamin-D-dependent rickets 1A (VDDR-1A) is caused by mutations of the renal CYP27B1 gene and is a rare form of rickets. 27287609 2017
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets 		0.230 Biomarker disease MGD Correction of the abnormal mineral ion homeostasis with a high-calcium, high-phosphorus, high-lactose diet rescues the PDDR phenotype of mice deficient for the 25-hydroxyvitamin D-1alpha-hydroxylase (CYP27B1). 12689675 2003
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets 		0.230 Biomarker disease MGD Rescue of the pseudo-vitamin D deficiency rickets phenotype of CYP27B1-deficient mice by treatment with 1,25-dihydroxyvitamin D3: biochemical, histomorphometric, and biomechanical analyses. 12674324 2003
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets 		0.230 Biomarker disease BEFREE The phenotypes of the gene KO mice deficient of 1alpha(OH)ase and VDR exhibited the clinical abnormalities observed in the VDDR patients. 12006701 2002
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets 		0.230 Biomarker disease MGD Modulation of renal Ca2+ transport protein genes by dietary Ca2+ and 1,25-dihydroxyvitamin D3 in 25-hydroxyvitamin D3-1alpha-hydroxylase knockout mice. 12205031 2002
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets 		0.230 Biomarker disease MGD Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. 11416220 2001
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets 		0.230 Biomarker disease MGD Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets. 11416036 2001
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets 		0.230 Biomarker disease BEFREE The importance of 25-hydroxyvitamin D3 1 alpha-hydroxylase gene in vitamin D-dependent rickets. 9690035 1998