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 GeneticVariation disease BEFREE Multivariate analysis revealed that cold season, advanced fibrosis, and CYP2R1 rs1993116 genotype non-AA were independent factors significantly associated with vitamin D deficiency. 30683615 2019
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 Biomarker disease BEFREE We aimed at investigating the family-based association between SNPs of CYP2R1 and CYP27B1 and vitamin D deficiency. 30993743 2019
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE The GG+GA genotype of CYP2R1 rs12794714 and AA+AG genotype of CYP2R1 rs10766196 were associated with prevalent vitamin D deficiency in children with type 1 diabetes. 31206955 2019
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE to investigate the contribution of polymorphisms in CYP2R1 gene to vitamin D deficiency and incidence of MI in Egyptians. 29804528 2018
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE Published articles provide evidence supporting a major role for the rs10741657 polymorphism of the CYP2R1 gene in determining 25(OH)D levels and the presence of vitamin D deficiency. 30120973 2018
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE We review the evidence that inactivating mutations in CYP2R1 can lead to a novel form of vitamin D-deficiency rickets resulting from impaired 25-hydroxylation of vitamin D. We sequenced the promoter, exons and intron-exon flanking regions of the CYP2R1 gene in members of 12 Nigerian families with rickets in more than one family member. 27473561 2017
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE The CYP2R1 rs10741657 gene showed that AG and GG allele carriers had significant risk of vitamin D deficiency. 27570856 2016
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 Biomarker disease BEFREE To compare vitamin D level-associated single-nucleotide polymorphisms (SNPs) in GC and CYP2R1, multiple sclerosis (MS) risk SNPs in CYP27B1, CYP24A1, and HLA-DRB1*1501, and adolescent exposure to environmental risk factors for hypovitaminosis D, with MS age at onset. 26446064 2016
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE CYP2R1 mutations cause a novel form of genetic vitamin D deficiency with semidominant inheritance. 25942481 2015
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE The rs70141657G/A of CYP2R1 and rs7041T/G and rs4588C/A of vitamin D binding protein genetic polymorphisms were associated with increased risk of vitamin D deficiency among apparently healthy Jordanians. 26383826 2015
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE Polymorphisms in CYP2R1-rs10766197 and DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations. 26149120 2015
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE To date, at least 3 candidate genes, vitamin D binding protein (VDBP) gene (GC), 25-hydroxylase (CYP2R1), and 7-dehydrocholesterol reductase/NAD synthetase 1 (DHCR7/NADSYN1), have been associated with serum 25-hydroxyvitamin D (25[OH]D) levels, but their influences on the prevalence of vitamin D deficiency in relation to other known risk factors have not been clearly defined. 25370324 2015
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE Previous studies have identified several common genetic variants in VDR, GC and CYP2R1 to be associated with circulating levels of 25-hydroxyvitamin D [25(OH)D] and vitamin D deficiency in Western populations. 24200978 2014
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.100 GeneticVariation disease BEFREE Mutation of the CYP2R1 vitamin D 25-hydroxylase in a Saudi Arabian family with severe vitamin D deficiency. 22855339 2012