Varaico: Literature-Extracted Genetic Variants

Gene:FRZB
Variant:p.R200W
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FRZB

NM_001463.4:p.R200W

Associated Papers

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Targeting the non-coding genome and temozolomide signature enables CRISPR-mediated glioma oncolysis.

Tan IL et al.

Cell Reports, 2023

37917583 (PubMed )
Supplement: NIHMS1948186-supplement-2.xlsx › All-Pat-ClinVar_Coding

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Barrio-Hernandez I et al.

Nature Genetics, 2023

36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence

Secreted frizzled-related protein 3 was genetically and functionally associated with developmental dysplasia of the hip.

Xu R et al.

Aging, 2021

Association study of the functional variants of the GLIS3 gene with risk of knee osteoarthritis.

Zhang JL et al.

Clinical Rheumatology, 2021

Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg.

Alves-Leon SV et al.

Frontiers in Genetics, 2021

33815474 (PubMed )
Supplement: Table_2.XLSX › Table_XX

Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry.

Minarik L et al.

Folia Biologica, 2020

Diametrical diseases reflect evolutionary-genetic tradeoffs: Evidence from psychiatry, neurology, rheumatology, oncology and immunology.

Crespi BJ et al.

Evolution, Medicine, and Public Health, 2015

Secreted Frizzled-related protein 3 (sFRP3)-mediated suppression of interleukin-6 receptor release by A disintegrin and metalloprotease 17 (ADAM17) is abrogated in the osteoarthritis-associated rare double variant of sFRP3.

Oldefest M et al.

The Biochemical Journal, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A7-A0CG-01A.domain

Association of common gene variants in the WNT/β-catenin pathway with colon cancer recurrence.

Páez D et al.

The Pharmacogenomics Journal, 2014

Association between polymorphisms in sclerostin, dickkopfs and secreted frizzled-related protein genes and bone mineral density in postmenopausal Korean women.

Lee DO et al.

Gynecologic and Obstetric Investigation, 2014

Association of single nucleotide polymorphisms in Wnt signaling pathway genes with breast cancer in Saudi patients.

Alanazi MS et al.

Plos One, 2013

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s008.xlsx › all_omim_evidence_point7_omicia

Variant alleles of the Wnt antagonist FRZB are determinants of hip shape and modify the relationship between hip shape and osteoarthritis.

Baker-Lepain JC et al.

Arthritis and Rheumatism, 2012

Clinical assessment incorporating a personal genome.

Ashley EA et al.

Lancet (london, England), 2010

Wnt pathway and IL-17: novel regulators of joint remodeling in rheumatic diseases. Looking beyond the RANK-RANKL-OPG axis.

Daoussis D et al.

Seminars in Arthritis and Rheumatism, 2010

No association of the polymorphisms of the frizzled-related protein gene with peak bone mineral density in Chinese nuclear families.

Gao G et al.

Bmc Medical Genetics, 2010

Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand.

Evangelou E et al.

Arthritis and Rheumatism, 2009

Genetic variants in frizzled-related protein (FRZB) and the risk of colorectal neoplasia.

Berndt SI et al.

Cancer Causes & Control : Ccc, 2009

WNT Signaling in osteoarthritis and osteoporosis: what is the biological significance for the clinician?

Lodewyckx L et al.

Current Rheumatology Reports, 2009

The contribution of genes to osteoarthritis.

Valdes AM et al.

The Medical Clinics of North America, 2009

Radiographic osteoarthritis at three joint sites and FRZB, LRP5, and LRP6 polymorphisms in two population-based cohorts.

Kerkhof JM et al.

Osteoarthritis and Cartilage, 2008

Wnt-beta-catenin signaling in the pathogenesis of osteoarthritis.

Corr M

Nature Clinical Practice. Rheumatology, 2008

Variation in the secreted frizzled-related protein-3 gene and risk of osteolysis and heterotopic ossification after total hip arthroplasty.

Gordon A et al.

Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2007

The functional genetic variant Arg324Gly of frizzled-related protein is associated with colorectal cancer risk.

Shanmugam KS et al.

Carcinogenesis, 2007

Further evidence of the role of frizzled-related protein gene polymorphisms in osteoarthritis.

Rodriguez-Lopez J et al.

Annals of the Rheumatic Diseases, 2007

Allelic expression analysis suggests that cis-acting polymorphism of FRZB expression does not contribute to osteoarthritis susceptibility.

Snelling S et al.

Osteoarthritis and Cartilage, 2007

Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee.

Valdes AM et al.

Arthritis and Rheumatism, 2007

Frizzled-related protein variants are risk factors for hip osteoarthritis.

Lane NE et al.

Arthritis and Rheumatism, 2006

Evidence for a differential association of the Arg200Trp single-nucleotide polymorphism in FRZB with hip osteoarthritis and osteoporosis.

Lories RJ et al.

Rheumatology (oxford, England), 2006

Polymorphism in signal transduction is a major route through which osteoarthritis susceptibility is acting.

Loughlin J

Current Opinion in Rheumatology, 2005

The genetic epidemiology of human primary osteoarthritis: current status.

Loughlin J

Expert Reviews in Molecular Medicine, 2005

Association of the Frizzled-related protein gene with symptomatic osteoarthritis at multiple sites.

Min JL et al.

Arthritis and Rheumatism, 2005

Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females.

Loughlin J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2004

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