Varaico: Literature-Extracted Genetic Variants

Gene:CILP
Variant:p.I395T
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CILP

NM_003613.4:p.I395T

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

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

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

Association between CILP and IL-1α polymorphisms and phenotype-dependent intervertebral disc degeneration susceptibility: A meta-analysis.

Liu J et al.

Frontiers in Genetics, 2022

Genome-wide association study identifies 18 novel loci associated with left atrial volume and function.

Ahlberg G et al.

European Heart Journal, 2021

34338756 (PubMed )
Supplement: ehab466_supplementary_data.zip › ehab466-suppl_data › Supplemental_Data_210602.xlsx › 18._Finemapped_missense_var.

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

Sequence variants with large effects on cardiac electrophysiology and disease.

Norland K et al.

Nature Communications, 2019

31641117 (PubMed )
Supplement: 41467_2019_12682_MOESM5_ESM.xlsx › Sheet1

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001

Association of CILP, COL9A2 and MMP3 Gene Polymorphisms with Lumbar Disc Degeneration in an Indian Population.

S M H et al.

Journal of Molecular Neuroscience : Mn, 2018

Functional polymorphisms in asporin and CILP together with joint loading predispose to hand osteoarthritis.

Taipale M et al.

Bmc Genetics, 2017

Cartilage Intermediate Layer Protein and Asporin Polymorphisms Are Independent Risk Factors of Lumbar Disc Degeneration in Male Collegiate Athletes.

Min SK et al.

Cartilage, 2014

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-s010.xlsx › all_omim_evidence.csv

Cartilage intermediate layer protein gene is associated with lumbar disc degeneration in male, but not female, collegiate athletes.

Min SK et al.

The American Journal of Sports Medicine, 2010

[Genetic basis for skeletal disease. Genetic factors of osteoarthritis with particular reference to skeletal dysplasia].

Ikegawa S

Clinical Calcium, 2010

The cartilage intermediate layer protein gene is associated with lumbar disc degeneration in collegiate judokas.

Min SK et al.

International Journal of Sports Medicine, 2009

Current evidence for a modulation of low back pain by human genetic variants.

Tegeder I et al.

Journal of Cellular and Molecular Medicine, 2009

The genetics of intervertebral disc degeneration. Associated genes.

Kalichman L et al.

Joint Bone Spine, 2008

Phenotypic and population differences in the association between CILP and lumbar disc disease.

Virtanen IM et al.

Journal of Medical Genetics, 2007

A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.

Seki S et al.

Nature Genetics, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."