Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 AlteredExpression disease BEFREE The gene expressions of vitamin D receptor and CYP27B1 and 25 hydroxyvitamin D plasma level ensured that the diets caused vitamin D deficiency or supplementation. 31175967 2019
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 Biomarker disease BEFREE The exact association between Vitamin D deficiency and chronic disease conditions remains unclear; however, studies have focused on the mechanism of Vitamin D regulation by assessing the role of the Vitamin D associated genes/proteins such as VDR (Vitamin D receptor), VDBP (Vitamin D Binding protein), CYP27B1 as these are integral parts of the Vitamin D signaling pathway. 31134092 2019
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE The results of the pilot case-control study indicated that both CT and TT genotypes of rs4646536 in CYP27B1 could increase the susceptibility of vitamin D deficiency when compared with CC genotype. 30993743 2019
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE In this study plasma GH concentrations in pigs with inherited pseudo vitamin D deficiency type I (PDDR-I), which regularly show growth retardation, were compared during ontogeny with unaffected pigs of the same breed (German Landrace, DL) as control. 29762475 2018
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 AlteredExpression disease BEFREE T1D-induced vitamin D deficiency is associated with impairments of renal and extrarenal CYP27B1 and VDR expression. 29552033 2018
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 Biomarker disease BEFREE In the current study, vitamin D3 1α-Hydroxylase ["1α(OH)ase"] knockout mice were generated to mimic vitamin D deficiency <i>in vivo</i>. 28968988 2017
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 Biomarker disease BEFREE To our knowledge, this is the first to use 1-alpha-hydroxylase [1α(OH)ase] knockout mice which characterized vitamin D deficiency to establish the breast cancer bone metastases model. 28922720 2017
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 Biomarker disease BEFREE VDDR-1A is a rare disorder which needs to be considered even in countries where nutritional vitamin D deficiency is still common. 27353739 2016
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE However, vitamin D deficiency in combination with the "AC" CYP27B1 genotype appeared to inhibit the CYP27B1 expression in NK cells (p=0.03). 23416105 2013
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE The demonstration that rare variants in CYP27B1, which encodes the enzyme that converts vitamin D to its active form, are strongly associated with MS risk supports a causal role of vitamin D deficiency as a risk factor for MS. 22547098 2012
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE Vitamin D deficiency and a CYP27B1-1260 promoter polymorphism are associated with chronic hepatitis C and poor response to interferon-alfa based therapy. 21145801 2011
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 Biomarker disease BEFREE Absence of a functional VDR or the key activating enzyme, 25-OHD-1alpha-hydroxylase (CYP27B1), in mice creates a bone and growth plate phenotype that mimics humans with the same congenital disease or severe vitamin D deficiency. 18694980 2008
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 Biomarker disease BEFREE The coexistence of vitamin-D-dependent-rickets type II with alopecia (VDDR IIA) and different forms of psychosis in the same inbred family has provided us with an opportunity to investigate the presumed relationship between vitamin D deficiency and psychosis. 14751420 2004
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 Biomarker disease BEFREE 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