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
|
| MeSH Number(s) |
E05.393.385
|
| 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
|
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,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2009 | 2 | 4 | 6 |
| 2010 | 2 | 17 | 19 |
| 2011 | 1 | 22 | 23 |
| 2012 | 6 | 29 | 35 |
| 2013 | 11 | 25 | 36 |
| 2014 | 9 | 21 | 30 |
| 2015 | 7 | 36 | 43 |
| 2016 | 20 | 30 | 50 |
| 2017 | 11 | 24 | 35 |
| 2018 | 14 | 17 | 31 |
| 2019 | 14 | 29 | 43 |
| 2020 | 7 | 23 | 30 |
| 2021 | 6 | 14 | 20 |
| 2022 | 0 | 5 | 5 |
| 2023 | 1 | 5 | 6 |
| 2024 | 3 | 7 | 10 |
| 2025 | 0 | 4 | 4 |
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Below are the most recent publications written about "Genetic Association Studies" by people in Profiles.
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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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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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Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes. J Med Genet. 2024 Oct 23; 61(11):1062-1067.
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Integrated Clinical Genotype-Phenotype Characteristics of STAT3-Mutated Myeloid Neoplasms. Clin Cancer Res. 2024 Oct 15; 30(20):4681-4689.
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MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability. Am J Med Genet A. 2025 Jan; 197(1):e63868.
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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53.
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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. Am J Hum Genet. 2024 Aug 08; 111(8):1605-1625.
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Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial. Pediatr Neurol. 2024 Oct; 159:62-71.