Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 GeneticVariation disease BEFREE Vitamin D requires a two-step activation by hydroxylation: The first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2) and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of 1,25-(OH)<sub>2</sub> D. Mutations of CYP2R1 have been associated with vitamin D-dependent rickets type 1B (VDDR1B), a very rare condition that has only been reported to affect 4 families to date. 28548312 2017
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 GeneticVariation disease BEFREE We conclude that mutations in CYP2R1 are responsible for an atypical form of vitamin D-deficiency rickets, which has been classified as vitamin D dependent rickets type 1B (VDDR1B, MIM 600081). 27473561 2017
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 Biomarker disease GENOMICS_ENGLAND Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1. 27716192 2016
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 GeneticVariation disease UNIPROT CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency. 25942481 2015
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 Biomarker disease GENOMICS_ENGLAND CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency. 25942481 2015
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 GeneticVariation disease BEFREE Absence of mutation in coding regions of CYP2R1 gene in apparent autosomal dominant vitamin D 25-hydroxylase deficiency rickets. 22419701 2012
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 GeneticVariation disease UNIPROT Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. 15128933 2004
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 Biomarker disease CTD_human
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 CausalMutation disease CLINVAR
CUI: C0268689
Disease: Vitamin D-dependent rickets, type 1
Vitamin D-dependent rickets, type 1 		0.310 GeneticVariation disease BEFREE Mutations in CYP27B1 cause 1α-hydroxylase deficiency, also known as vitamin D dependent rickets type I or hereditary pseudo-vitamin D deficient rickets; very rare mutations in CYP2R1 can cause 25-hydroxylase deficiency. 27060335 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.310 Biomarker disease CTD_human Chronic CCl4 intoxication causes liver and bone damage similar to the human pathology of hepatic osteodystrophy: a mouse model to analyse the liver-bone axis. 24381012 2014
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.310 Biomarker disease BEFREE No associations were found between liver fibrosis and both CYP2R1 and GC genotypes. 23730842 2013
CUI: C0268689
Disease: Vitamin D-dependent rickets, type 1
Vitamin D-dependent rickets, type 1 		0.310 GermlineCausalMutation disease ORPHANET
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1. 27716192 2016
CUI: C0005944
Disease: Metabolic Bone Disorder
Metabolic Bone Disorder 		0.300 Biomarker group CTD_human Chronic CCl4 intoxication causes liver and bone damage similar to the human pathology of hepatic osteodystrophy: a mouse model to analyse the liver-bone axis. 24381012 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.300 Biomarker disease CTD_human Chronic CCl4 intoxication causes liver and bone damage similar to the human pathology of hepatic osteodystrophy: a mouse model to analyse the liver-bone axis. 24381012 2014
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.300 Biomarker disease CTD_human Chronic CCl4 intoxication causes liver and bone damage similar to the human pathology of hepatic osteodystrophy: a mouse model to analyse the liver-bone axis. 24381012 2014
CUI: C0035579
Disease: Rickets
Rickets 		0.150 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: C0035579
Disease: Rickets
Rickets 		0.150 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: C0035579
Disease: Rickets
Rickets 		0.150 GeneticVariation disease BEFREE CYP2R1 sequences were normal in 27 children with sporadic rickets, but missense mutations were identified in affected members of 2 of 12 families, a previously identified L99P, and a novel K242N. 25942481 2015
CUI: C0035579
Disease: Rickets
Rickets 		0.150 GeneticVariation disease BEFREE In our case-control cohort, six alleles of the 12 SNPs conferred a significantly increased risk of rickets in GC (rs4588 C, P = 0.003, OR: 0.583, 95% CI: 0.412-0.836; rs222020 C, P = 0.009, OR: 1.526, 95% CI: 1.117-2.0985; rs2282679 A, P = 0.010, OR: 0.636, 95% CI: 0.449-0.900; and rs2298849 C, P = 0.001, OR: 1.709, 95% CI: 1.250-2.338) and in CYP2R1 (rs10741657 G, P = 0.019, OR: 1.467, 95% CI: 1.070-2.011; and rs2060793 G, P = 0.023, OR: 0.689, 95% CI: 0.502-0.944). 24073854 2013
CUI: C0035579
Disease: Rickets
Rickets 		0.150 GeneticVariation disease BEFREE Absence of mutation in coding regions of CYP2R1 gene in apparent autosomal dominant vitamin D 25-hydroxylase deficiency rickets. 22419701 2012
CUI: C0035579
Disease: Rickets
Rickets 		0.150 Biomarker disease HPO
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