Genetic Association Studies
"Genetic Association Studies" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
Descriptor ID |
D056726
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MeSH Number(s) |
E05.393.385
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Concept/Terms |
Genetic Association Studies- Genetic Association Studies
- Association Studies, Genetic
- Association Study, Genetic
- Genetic Association Study
- Studies, Genetic Association
- Study, Genetic Association
Genotype-Phenotype Associations- Genotype-Phenotype Associations
- Association, Genotype-Phenotype
- Associations, Genotype-Phenotype
- Genotype Phenotype Associations
- Genotype-Phenotype Correlation
- Genotype Phenotype Correlation
- Genotype-Phenotype Correlations
- Correlation, Genotype-Phenotype
- Correlations, Genotype-Phenotype
- Genotype Phenotype Correlations
- Genotype-Phenotype Association
- Genotype Phenotype Association
Candidate Gene Analysis- Candidate Gene Analysis
- Analyses, Candidate Gene
- Analysis, Candidate Gene
- Candidate Gene Analyses
- Gene Analyses, Candidate
- Gene Analysis, Candidate
Candidate Gene Identification- Candidate Gene Identification
- Gene Identification, Candidate
- Identification, Candidate Gene
- Candidate Gene Association Study
- Gene Discovery
- Discovery, Gene
- Candidate Gene Association Studies
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Below are MeSH descriptors whose meaning is more general than "Genetic Association Studies".
Below are MeSH descriptors whose meaning is more specific than "Genetic Association Studies".
This graph shows the total number of publications written about "Genetic Association Studies" by people in this website by year, and whether "Genetic Association Studies" was a major or minor topic of these publications.
To see the data from this visualization as text,
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Year | Major Topic | Minor Topic | Total |
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2009 | 2 | 4 | 6 |
2010 | 2 | 19 | 21 |
2011 | 1 | 25 | 26 |
2012 | 6 | 30 | 36 |
2013 | 11 | 28 | 39 |
2014 | 10 | 25 | 35 |
2015 | 7 | 40 | 47 |
2016 | 21 | 35 | 56 |
2017 | 11 | 26 | 37 |
2018 | 15 | 21 | 36 |
2019 | 14 | 31 | 45 |
2020 | 8 | 23 | 31 |
2021 | 6 | 17 | 23 |
2022 | 0 | 8 | 8 |
2023 | 1 | 5 | 6 |
2024 | 3 | 7 | 10 |
2025 | 2 | 8 | 10 |
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Below are the most recent publications written about "Genetic Association Studies" by people in Profiles.
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A clinical and genotype-phenotype analysis of MACF1 variants. Am J Hum Genet. 2025 Oct 02; 112(10):2363-2380.
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ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation. Cell Rep. 2025 Sep 23; 44(9):116230.
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Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders. Dis Model Mech. 2025 Jul 01; 18(7).
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Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar. Cancer Genet. 2025 Sep; 296-297:84-87.
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Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype-phenotype correlations and suggests its role in glial cells. Hum Mol Genet. 2025 May 17; 34(11):990-999.
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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation. Am J Hum Genet. 2025 May 01; 112(5):1139-1157.
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Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies. HGG Adv. 2025 Jul 10; 6(3):100426.
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Genetic Associations With C-peptide Levels Before Type 1 Diabetes Diagnosis in At-risk Relatives. J Clin Endocrinol Metab. 2025 Mar 17; 110(4):e1046-e1050.
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Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders. Neurology. 2025 Apr 08; 104(7):e213429.
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Genotypic and Phenotypic Characterization of Hexokinase 1 p.Glu847Lys Variant Causing Autosomal Dominant Pericentral Retinitis Pigmentosa. Ophthalmic Surg Lasers Imaging Retina. 2025 Jun; 56(6):328-334.