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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: May 03, 2024
. (Total: 63770 Documents since 2012)
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Cord blood DNA methylation signatures associated with preeclampsia are enriched for cardiovascular pathways: insights from the VDAART trial.
Hanna M Knihtilä et al. EBioMedicine 2023 98104890
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Correlation of vitamin D receptor genotypes, Specific IgE levels and other variables with asthma control in children.
Walid Al-Qerem et al. J Asthma 2023 1-21
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Polymorphisms in VDR, CYP27B1, CYP2R1, GC and CYP24A1 Genes as Biomarkers of Survival in Non-Small Cell Lung Cancer: A Systematic Review.
Laura Elena Pineda-Lancheros et al. Nutrients 2023 15(6)
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Role of the Vitamin D Receptor (VDR) in the Pathogenesis of Osteoporosis: A Genetic, Epigenetic and Molecular Pilot Study.
Beatrice Gasperini et al. Genes 2023 14(3)
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Hereditary Rickets: A Quick Guide for the Pediatrician.
AlSubaihin Abdulmajeed et al. Current pediatric reviews 2022
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Vitamin Status in Children with Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutation.
Wysocka-Wojakiewicz Paulina et al. Nutrients 2022 14(21)
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Gene-Environment Interactions in Vitamin D Status and Sun Exposure: A Systematic Review with Recommendations for Future Research.
Shraim Rasha et al. Nutrients 2022 14(13)
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Relationship Between a Vitamin D Genetic Risk Score and Autoantibodies Among First-Degree Relatives of Probands With Rheumatoid Arthritis and Systemic Lupus Erythematosus.
Vanderlinden Lauren A et al. Frontiers in immunology 2022 13881332
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Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population.
Fortin Carol-Ann et al. Frontiers in endocrinology 2022 13887371
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Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
Molin Arnaud et al. Frontiers in endocrinology 2021 12736240
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Genetics of kidney stone disease-Polygenic meets monogenic.
Halbritter Jan et al. Nephrologie & therapeutique 2021 17SS88-S94
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Development and validation of a risk prediction model for high-risk adenomas at the time of first screening colonoscopy among screening aged Canadians.
Sutherland R Liam et al. Preventive medicine 2021 106563
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Diet Modulates the Effects of Genetic Variants on the Vitamin D Metabolic Pathway and Bone Mineral Density in Mexican Postmenopausal Women.
Rivera-Paredez Berenice et al. The Journal of nutrition 2021
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A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case-control study in California.
Lyall Kristen et al. Molecular autism 2021 12(1) 24
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The causal effect of serum vitamin D concentration on COVID-19 susceptibility, severity and hospitalization traits: a Mendelian randomization study
Z Cui et al, MEDRXIV, March 13, 2021
Genetically predicted serum vitamin D and COVID-19: a Mendelian randomization study
BK Patchen et al, MEDRXIV, February 1, 2021
Influence of VDR and HFE polymorphisms on blood lead levels of occupationally exposed workers.
Mani Monica Shirley et al. Human & experimental toxicology 2020 Nov 960327120975451
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The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study.
Padidela Raja et al. Orphanet journal of rare diseases 2020 Jun 15(1) 172
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Vitamin D supplementation for sickle cell disease.
Soe Htoo Htoo Kyaw et al. The Cochrane database of systematic reviews 2020 May 5CD010858
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The causal role of circulating vitamin D concentrations in human complex traits and diseases: a large-scale Mendelian randomization study
X Jiang et al, BIOXIV, December 2019
Mom's immune system and microbiome may help predict premature birth
A Keener, Science News, November 8, 2019
Commentary: Role of vitamin D in disease through the lens of Mendelian randomization-Evidence from Mendelian randomization challenges the benefits of vitamin D supplementation for disease prevention.
Manousaki Despoina, et al. International journal of epidemiology 2019 9 0.
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CLINGEN Actionability Report for Phenylketonuria (PKU) - PAH
ClinGen Actionability Working Group
CLINGEN Actionability Report for Hypophosphatemic rickets, autosomal dominant-FGF23
ClinGen Actionability Working Group
CLINGEN Actionability Report for Glycogen Storage Disease 2 - GAA
ClinGen Actionability Working Group
CLINGEN Actionability Report for Hypophosphatasia-ALPL
ClinGen Actionability Working Group
CLINGEN Actionability Report for Hypophosphatemic rickets, X-linked dominant-PHEX
ClinGen Actionability Working Group
CLINGEN Actionability Report for Hyperparathyroidism 2 - HPRT2 - CDC73
ClinGen Actionability Working Group
CLINGEN Actionability Report for Gaucher Disease - GBA
ClinGen Actionability Working Group
CLINGEN Actionability Report for Ornithine Transcarbamylase Deficiency-OTC
ClinGen Actionability Working Group
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 03, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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