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VDR and diabetes mellitus are reported together in 16 articles.
Gene
VDR
- HGNC
- HGNC:12679
87articles
87mentions
10variants with confirmed gene link (top 10)
Most co-reported phenotypes (articles)
diabetes mellitus 16obesity 6COVID-19 3tuberculosis 3breast cancer 2colorectal cancer 2hepatocellular carcinoma 2hypertension 2
Reported variants (articles · ClinVar status)
Phenotype
Diabetes mellitus
2,156articles
2,156mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
16 records shown · first 60Association of VDR gene variant rs2228570-FokI with gestational diabetes mellitus susceptibility in Arab women.
PMID 38882352 | PMCID PMC11177144 | DOI 10.1016/j.heliyon.2024.e32048 · Heliyon · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “Association of VDR gene variant rs2228570-FokI with gestational diabetes mellitus susceptibility in Arab women.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Association of VDR gene variant rs2228570-FokI with gestational diabetes mellitus susceptibility in Arab women.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “A total of 368 pregnant Saudi women who were screened for GDM at 24-28 weeks of gestation and genotyped for the VDR gene variant (rs2228570) were included in this cross-sectional study. Among pregnant Saudi women, glycemic indices appear to be influenced by vitamin D, suggesting a possible role it may play in mitigating the metabolic changes associated with GDM, particularly among individuals with specific genetic backgrounds.” | 0.95 | saudi_context_rules_v1 |
| variant | rs2228570 | “Association of VDR gene variant rs2228570-FokI with gestational diabetes mellitus susceptibility in Arab women.” | 0.90 | hgvs_regex_v1 |
Relevance of Serum Levels and Functional Genetic Variants in Vitamin D Receptor Gene among Saudi Women with Gestational Diabetes Mellitus.
PMID 37836571 | PMCID PMC10574375 | DOI 10.3390/nu15194288 · Nutrients · 2023 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “Background: This study explored the association between ApaI-TaqI Single Nucleotide Polymorphisms (SNPs) in a Vitamin D receptor (VDR) and the risk of Gestational Diabetes Mellitus (GDM) in Saudi women, along with the serum levels of vitamin D.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Relevance of Serum Levels and Functional Genetic Variants in Vitamin D Receptor Gene among Saudi Women with Gestational Diabetes Mellitus.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | obesity | “Vitamin D levels were associated with deficient levels (p = 0.0002), as well as with a normal and overweight body mass index (p = 0.0004).” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Relevance of Serum Levels and Functional Genetic Variants in Vitamin D Receptor Gene among Saudi Women with Gestational Diabetes Mellitus. Background: This study explored the association between ApaI-TaqI Single Nucleotide Polymorphisms (SNPs) in a Vitamin D receptor (VDR) and the risk of Gestational Diabetes Mellitus (GDM) in Saudi women, along with the serum levels of vitamin D.” | 0.95 | saudi_context_rules_v1 |
Association of Vitamin D Deficiency and Vitamin D Receptor Genetic Variants With Coronary Artery Disease in Type 2 Diabetic Saudi Patients.
PMID 35478145 | PMCID PMC9087110 | DOI 10.21873/invivo.12850 · In vivo (Athens, Greece) · 2022 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “Polymorphisms in the vitamin D receptor (VDR) have been linked to coronary artery disease (CAD).” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “BACKGROUND/AIM: Vitamin D deficiency accelerates the onset of type 2 diabetes mellitus (T2DM).” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | coronary artery disease | “Association of Vitamin D Deficiency and Vitamin D Receptor Genetic Variants With Coronary Artery Disease in Type 2 Diabetic Saudi Patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Association of Vitamin D Deficiency and Vitamin D Receptor Genetic Variants With Coronary Artery Disease in Type 2 Diabetic Saudi Patients.” | 0.95 | saudi_context_rules_v1 |
Protective Association of Single Nucleotide Polymorphisms rs1861868-FTO and rs7975232-VDR and Obesity in Saudi Females.
PMID 32547165 | PMCID PMC7266403 | DOI 10.2147/IJGM.S251466 · International journal of general medicine · 2020 · 22 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “Twelve SNPs of different genes that showed a correlation with obesity in different population were tested, namely GNPDA2 (rs10938397), TCF7L2 (rs10885409), FTO (rs1477196), ADIPOQ (rs1501299), MC4R (rs17782313), ABCA1 (rs1800977), FTO (rs1861868), VDR (rs2228570), VDR (rs731236), VDR (rs7975232), ADIPOQ (rs266729), and PFPK (rs6602024).” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “It predisposes individuals to diabetes, cardiovascular complications, and cancer.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | GNPDA2 | “Twelve SNPs of different genes that showed a correlation with obesity in different population were tested, namely GNPDA2 (rs10938397), TCF7L2 (rs10885409), FTO (rs1477196), ADIPOQ (rs1501299), MC4R (rs17782313), ABCA1 (rs1800977), FTO (rs1861868), VDR (rs2228570), VDR (rs731236), VDR (rs7975232), ADIPOQ (rs266729), and PFPK (rs6602024).” | 0.98 | hgnc_dict_v1 |
| gene | TCF7L2 | “Twelve SNPs of different genes that showed a correlation with obesity in different population were tested, namely GNPDA2 (rs10938397), TCF7L2 (rs10885409), FTO (rs1477196), ADIPOQ (rs1501299), MC4R (rs17782313), ABCA1 (rs1800977), FTO (rs1861868), VDR (rs2228570), VDR (rs731236), VDR (rs7975232), ADIPOQ (rs266729), and PFPK (rs6602024).” | 0.98 | hgnc_dict_v1 |
A Comprehensive Analysis of Unique and Recurrent Copy Number Variations in Alzheimer's Disease and its Related Disorders.
PMID 33256577 | DOI 10.2174/1567205017666201130111424 · Current Alzheimer research · 2020 · 17 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “We identified CNVs in genes that encode proteins involved in the metabolism of amyloid-β peptide (AGRN, APBA2, CR1, CR2, IGF2R, KIAA0125, MBP, RER1, RTN4R, VDR and WISPI) or Tau proteins (CACNAIC, CELF2, DUSP22, HTRA1 and SLC2A14).” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Type 2 diabetes mellitus (T2DM) and major depressive disorder (MDD) were shown to have share mechanisms and signaling pathways with AD.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | APOE | “OBJECTIVE: We aimed to assess CNVs regions that may harbor genes contributing to AD, T2DM, and MDD in 67 Saudi familial and sporadic AD patients, with no alterations in the known genes of AD and genotyped previously for APOE.” | 0.98 | hgnc_dict_v1 |
| gene | AGRN | “We identified CNVs in genes that encode proteins involved in the metabolism of amyloid-β peptide (AGRN, APBA2, CR1, CR2, IGF2R, KIAA0125, MBP, RER1, RTN4R, VDR and WISPI) or Tau proteins (CACNAIC, CELF2, DUSP22, HTRA1 and SLC2A14).” | 0.98 | hgnc_dict_v1 |
Genetics and genomics studies in type 2 diabetes: A brief review of the current scenario in the Arab region.
PMID 31336532 | DOI 10.1016/j.dsx.2019.03.017 · Diabetes & metabolic syndrome · 2019 · 18 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “Studies from Egypt, Iraq, Jordan, Oman, Qatar, Saudi Arabia, Tunisia, and United Arab Emirates had been explored studying the associations of GIPR, ADIPOQ, FTO, (GRCh38.p12), MLXIP, AKNAD1, KCNJ11 CDKAL1, CDKN2A/2B, TCF7L2, ACE, SNAP25, ELMO1, VDR, KCTD8, GABRA4 and PRKD1 genes with T2D development.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Genetics and genomics studies in type 2 diabetes: A brief review of the current scenario in the Arab region.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | GIPR | “Studies from Egypt, Iraq, Jordan, Oman, Qatar, Saudi Arabia, Tunisia, and United Arab Emirates had been explored studying the associations of GIPR, ADIPOQ, FTO, (GRCh38.p12), MLXIP, AKNAD1, KCNJ11 CDKAL1, CDKN2A/2B, TCF7L2, ACE, SNAP25, ELMO1, VDR, KCTD8, GABRA4 and PRKD1 genes with T2D development.” | 0.98 | hgnc_dict_v1 |
| gene | ADIPOQ | “Studies from Egypt, Iraq, Jordan, Oman, Qatar, Saudi Arabia, Tunisia, and United Arab Emirates had been explored studying the associations of GIPR, ADIPOQ, FTO, (GRCh38.p12), MLXIP, AKNAD1, KCNJ11 CDKAL1, CDKN2A/2B, TCF7L2, ACE, SNAP25, ELMO1, VDR, KCTD8, GABRA4 and PRKD1 genes with T2D development.” | 0.98 | hgnc_dict_v1 |
Vitamin D Deficiency in the Gulf Cooperation Council: Exploring the Triad of Genetic Predisposition, the Gut Microbiome and the Immune System.
PMID 31134092 | PMCID PMC6524467 | DOI 10.3389/fimmu.2019.01042 · Frontiers in immunology · 2019 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “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.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “In parallel runs the increasing prevalence of acute and chronic illnesses including, autoimmune diseases, cancer, type 1 diabetes mellitus, cardiovascular disease and Inflammatory bowel disease in the adult as well as the pediatric population of these countries.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CYP27B1 | “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.” | 0.98 | hgnc_dict_v1 |
| phenotype | inflammatory bowel disease | “In parallel runs the increasing prevalence of acute and chronic illnesses including, autoimmune diseases, cancer, type 1 diabetes mellitus, cardiovascular disease and Inflammatory bowel disease in the adult as well as the pediatric population of these countries.” | 0.98 | phenotype_alias_lexicon_v2 |
Evaluation of vitamin D receptor gene polymorphisms (Fok-I and Bsm-I) in T1DM Saudi children.
PMID 29417618 | PMCID PMC6817155 | DOI 10.1002/jcla.22397 · Journal of clinical laboratory analysis · 2018 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “Altered gene expression and function have strong effect on VDR gene polymorphism.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “BACKGROUND: Vitamin D deficiency conferred strongest susceptibility to pathogenesis of type 1 diabetes mellitus (T1DM).” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Evaluation of vitamin D receptor gene polymorphisms (Fok-I and Bsm-I) in T1DM Saudi children. OBJECTIVES: We aimed to check for the association of two single nucleotide polymorphisms (SNPs) in VDR gene (Fok-I and Bsm-I) with T1DM in Saudi children. SUBJECTS AND METHODS: Cross-sectional study included 100 T1DM Saudi children, plus 102 unrelated healthy subjects. CONCLUSION: This study emphasizes a positive association between SNPs (Fok-I and Bsm-I) and T1DM among Saudi children with increased risk with the Fok-I F and Bsm-I b alleles.” | 0.95 | saudi_context_rules_v1 |
Association of Circulating Vitamin D, VDBP, and Vitamin D Receptor Expression with Severity of Diabetic Nephropathy in a Group of Saudi Type 2 Diabetes Mellitus Patients.
PMID 30336516 | DOI 10.7754/Clin.Lab.2018.180401 · Clinical laboratory · 2018 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “We aimed to analyze the circulating levels of total 25-hydroxy vitamin D (25-OHD), vitamin D receptor (VDR) transcript and VD-binding protein (VDBP) in a sample of Saudi T2DM and to correlate these profiles with diabetic nephropathy and insulin resistance.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Association of Circulating Vitamin D, VDBP, and Vitamin D Receptor Expression with Severity of Diabetic Nephropathy in a Group of Saudi Type 2 Diabetes Mellitus Patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Association of Circulating Vitamin D, VDBP, and Vitamin D Receptor Expression with Severity of Diabetic Nephropathy in a Group of Saudi Type 2 Diabetes Mellitus Patients. We aimed to analyze the circulating levels of total 25-hydroxy vitamin D (25-OHD), vitamin D receptor (VDR) transcript and VD-binding protein (VDBP) in a sample of Saudi T2DM and to correlate these profiles with diabetic nephropathy and insulin resistance. CONCLUSIONS: The study findings suggest a potential role of vitamin D metabolic players in DN, with a special concern regarding serum VDPB as a putative predictor of DN severity in type 2 DM Saudi patients.” | 0.95 | saudi_context_rules_v1 |
Genetic determinants of serum 25-hydroxyvitamin D concentration during pregnancy and type 1 diabetes in the child.
PMID 28976992 | PMCID PMC5627909 | DOI 10.1371/journal.pone.0184942 · PloS one · 2017 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “RESULTS: Associations between serum 25OHD concentration and 2 SNPs, one in the vitamin D receptor (VDR) gene (rs4516035) and one in the group-specific component (GC) gene (rs12512631), were stronger during pregnancy in mothers whose children later developed type 1 diabetes than in mothers whose children did not (pinteraction = 0.03, 0.02, respectively).” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Genetic determinants of serum 25-hydroxyvitamin D concentration during pregnancy and type 1 diabetes in the child.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | rs4516035 | “RESULTS: Associations between serum 25OHD concentration and 2 SNPs, one in the vitamin D receptor (VDR) gene (rs4516035) and one in the group-specific component (GC) gene (rs12512631), were stronger during pregnancy in mothers whose children later developed type 1 diabetes than in mothers whose children did not (pinteraction = 0.03, 0.02, respectively).” | 0.90 | hgvs_regex_v1 |
| variant | rs12512631 | “RESULTS: Associations between serum 25OHD concentration and 2 SNPs, one in the vitamin D receptor (VDR) gene (rs4516035) and one in the group-specific component (GC) gene (rs12512631), were stronger during pregnancy in mothers whose children later developed type 1 diabetes than in mothers whose children did not (pinteraction = 0.03, 0.02, respectively).” | 0.90 | hgvs_regex_v1 |
Vitamin D Receptor Gene Polymorphisms Modify Cardiometabolic Response to Vitamin D Supplementation in T2DM Patients.
PMID 28811597 | PMCID PMC5557960 | DOI 10.1038/s41598-017-08621-7 · Scientific reports · 2017 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “Thus, we studied the metabolic effects of a 12-month vitamin D supplementation in T2DM patients according to VDR polymorphisms.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “There is conflicting evidence on the favorable effects of vitamin D supplementation on metabolic profile in Type 2 diabetes mellitus (T2DM) patients and this might be due to genetic variations in vitamin D receptors (VDRs).” | 0.98 | phenotype_alias_lexicon_v2 |
Maternal VDR variants rather than 25-hydroxyvitamin D concentration during early pregnancy are associated with type 1 diabetes in the offspring.
PMID 26109216 | DOI 10.1007/s00125-015-3675-8 · Diabetologia · 2015 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “Maternal VDR variants rather than 25-hydroxyvitamin D concentration during early pregnancy are associated with type 1 diabetes in the offspring.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Maternal VDR variants rather than 25-hydroxyvitamin D concentration during early pregnancy are associated with type 1 diabetes in the offspring.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | NADSYN1 | “RESULTS: The genotype distributions of 13 SNPs (in the following genes: 7-dehydrocholesterol reductase NADSYN1/DHCR7, vitamin D receptor VDR, group-specific component GC and CYP27A1) that showed a nominal association with 25-hydroxyvitamin D concentration (p < 0.05) were compared between case and control families.” | 0.98 | hgnc_dict_v1 |
| gene | DHCR7 | “RESULTS: The genotype distributions of 13 SNPs (in the following genes: 7-dehydrocholesterol reductase NADSYN1/DHCR7, vitamin D receptor VDR, group-specific component GC and CYP27A1) that showed a nominal association with 25-hydroxyvitamin D concentration (p < 0.05) were compared between case and control families.” | 0.98 | hgnc_dict_v1 |
Association of vitamin D receptor gene BsmI (A>G) and FokI (C>T) polymorphism in gestational diabetes among Saudi Women.
PMID 26870091 | PMCID PMC4744276 | DOI 10.12669/pjms.316.7525 · Pakistan journal of medical sciences · 2015 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “OBJECTIVE: Vitamin D receptor (VDR) gene polymorphism have a role in diabetes mellitus pathogenesis.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Association of vitamin D receptor gene BsmI (A>G) and FokI (C>T) polymorphism in gestational diabetes among Saudi Women.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Association of vitamin D receptor gene BsmI (A>G) and FokI (C>T) polymorphism in gestational diabetes among Saudi Women. Present study was conducted to determine VDR gene variants among Saudi gestational diabetics (GDM) in Madina, KSA. METHODS: This cross sectional study was conducted on 112 GDM patients and 218 normal healthy control. CONCLUSION: VDR BsmI and FokI polymorphic marker not associated with Saudi GDM.” | 0.95 | saudi_context_rules_v1 |
Association of VDR-gene variants with factors related to the metabolic syndrome, type 2 diabetes and vitamin D deficiency.
PMID 24680778 | DOI 10.1016/j.gene.2014.03.044 · Gene · 2014 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “This study was conducted to assess the association between vitamin D receptor (VDR) polymorphisms and genetic susceptibility to components of the metabolic syndrome, type 2 diabetes mellitus (T2DM), and vitamin D deficiency in the Saudi Arabian population.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Association of VDR-gene variants with factors related to the metabolic syndrome, type 2 diabetes and vitamin D deficiency.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | metabolic syndrome | “Association of VDR-gene variants with factors related to the metabolic syndrome, type 2 diabetes and vitamin D deficiency.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | obesity | “The CT genotype and allele T of BsmI were associated with lower HDL-C levels [OR 0.60 (0.37, 0.96), p=0.03] and obesity [OR 1.4 (1.0, 1.90), p=0.04], respectively.” | 0.98 | phenotype_alias_lexicon_v2 |
Vitamin D in health and disease: a literature review.
PMID 24400428 | DOI 10.1080/09674845.2013.11669951 · British journal of biomedical science · 2013 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “The active form, 1alpha,25-(OH)2D, binds to the vitamin D receptor (VDR) to modulate gene transcription and regulate mineral ion homeostasis.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Vitamin D deficiency has been associated with numerous health outcomes, including risk of rickets in children or osteomalacia in adults, increased risk of fractures, falls, cancer, autoimmune disease, infectious disease, type 1 and type 2 diabetes, hypertension and heart disease, and other diseases such as multiple sclerosis.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | hypertension | “Vitamin D deficiency has been associated with numerous health outcomes, including risk of rickets in children or osteomalacia in adults, increased risk of fractures, falls, cancer, autoimmune disease, infectious disease, type 1 and type 2 diabetes, hypertension and heart disease, and other diseases such as multiple sclerosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | multiple sclerosis | “Vitamin D deficiency has been associated with numerous health outcomes, including risk of rickets in children or osteomalacia in adults, increased risk of fractures, falls, cancer, autoimmune disease, infectious disease, type 1 and type 2 diabetes, hypertension and heart disease, and other diseases such as multiple sclerosis.” | 0.98 | phenotype_alias_lexicon_v2 |
Vitamin D receptor gene polymorphisms and HLA DRB1*04 cosegregation in Saudi type 2 diabetes patients.
PMID 22219324 | DOI 10.4049/jimmunol.1101954 · Journal of immunology (Baltimore, Md. : 1950) · 2012 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VDR | “The vitamin D receptor (VDR) gene has been involved in the modulation of susceptibility to inflammatory and autoimmune conditions, and could play a role in the pathogenesis of type 2 diabetes mellitus (T2DM).” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Vitamin D receptor gene polymorphisms and HLA DRB1*04 cosegregation in Saudi type 2 diabetes patients.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Riyadh | “Vitamin D receptor gene polymorphisms and HLA DRB1*04 cosegregation in Saudi type 2 diabetes patients. We evaluated possible correlations between VDR polymorphisms, HLA alleles, and risk for development of T2DM by analyzing 627 individuals (368 T2DM patients and 259 healthy control subjects) part of a well-characterized cohort followed in Riyadh, Kingdom of Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| variant | rs731236 | “Results showed T2DM to be significantly associated with the VDR Taq1 (rs731236-AG) and Bsm-I (rs1544410-CT) genotypes, and the VDR rs1544410-T allele.” | 0.90 | hgvs_regex_v1 |