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Dataset results
374 results for “gene polymorphism”
Gene Polymorphism Associated With Macroangiopathy in Type 2 Diabetes Patients
ClinicalTrials.gov study NCT02882945. IPD Sharing: UNDECIDED. Countries: 0. Publications: 0.
Alterations in GRHL2-OVOL2-ZEB1 Axis and Aberrant Activation of Wnt Signaling Lead to Altered Gene Transcription in Posterior Polymorphous Corneal Dystrophy
GEO Series GSE126487. Homo sapiens. 2 samples. Type: Expression profiling by high throughput sequencing.
Comparative genomics of Plasmodium yoelii nigeriensis N67 and N67C: Genome-wide polymorphisms, differential gene expression, and drug resistance
GEO Series GSE278246. Plasmodium yoelii yoelii. 10 samples. Type: Expression profiling by high throughput sequencing.
Serotyping of Streptococcus pneumoniae based on capsular genes polymorphisms
GEO Series GSE45865. Streptococcus pneumoniae. 168 samples. Type: Genome variation profiling by array.
Identification of rare copy number polymorphic gains at 3q12.2 and 19q13.2 identifies candidate genes for familial endometriosis
GEO Series GSE85701. Homo sapiens. 11 samples. Type: Genome variation profiling by array.
Genotyping of Single Nucleotide Polymorphisms (SNP) in photosynthetic genes of Sorghum bicolor
GEO Series GSE102452. Sorghum bicolor. 359 samples. Type: SNP genotyping by SNP array; Genome variation profiling by SNP array.
Data platform related to ERDF postdoctoral project No. 1.1.1.2/VIAA/4/20/718 "The role of vitamin D gene polymorphisms and its receptors in the modulation of intestinal inflammation in patients with relapsing and progressive forms of multiple sclerosis".
<p><strong>Description of contents of the data platform (dataset 1 ) based on the ERDF postdoctoral project No. 1.1.1.2/VIAA/4/20/718</strong><strong> “</strong><strong>The role of vitamin D and its receptor gene polymorphisms in the modulation of intestinal inflammation in patients with relapsing and progressive forms of multiple sclerosis</strong><strong>”. </strong></p> <p><strong>About the project and gathered data:</strong></p> <p>The two datasets contain clinical data on 289 sex-balanced samples (approximately 60% women / 40% men)) were created at the MS Clinic of the Latvian Maritime Medical Center (LMMC) in 2011 (disease duration of 1-51 years); the collection was updated within the framework of the ERDF MS project (2017-2020) and replenished during the ERDF postdoctoral project No. 1.1.1.2/VIAA/4/20/718 “The role of vitamin D and its receptor gene polymorphisms in the modulation of intestinal inflammation in patients with relapsing and progressive forms of multiple sclerosis” (2021-2023).</p> <p>The following pre-selected information was assessed from the clinic database for each patient for the <strong>first dataset (1 Data_MS collection)</strong>: gender, age, age of onset of multiple sclerosis (MS), year of onset, the first symptoms, exacerbations in the first year, clinical MS disease course (estimated Expanded Disability Status Scale (EDSS) at diagnosis, Disease-Modifying Therapy (DMT), clinical activity, Magnetic resonance (MR) activity, other autoimmune diseases, duration of illness, time of the transition from relapsing-remitting MS course (RRMS) to secondary-progressive MS course (SPMS); year of start SPMS, RRMS>SPMS (RRMS duration in years). Clinical information was distributed according to the development of disease progression over five visits. Information related to the forms of disability progression of MS was assessed from medical files for the given period (12 years) for a complete picture of the history of disease progression.</p> <p>The following pre-selected information was assessed from the clinic database for each patient for the first dataset <strong>(</strong><strong>2 </strong><strong>Data_MS_2011_2018_2022):</strong> <strong>Clinical</strong> <strong>data for 2011:</strong> Age, clinical course of MS, estimated Expanded Disability Status Scale (EDSS)<strong>,</strong> Clinical activity, Invalidity progression, MR activity, NEDA-3*, IgA, g/l, IgM, g/l, IgG, g/l, CD3, cell/ml, CD4, cell/ml, CD8, cell/ml, Disease-Modifying Therapy (DMT), period of therapy.</p> <p>*Progress of disease and response to treatment was evaluated in terms of “no evidence of disease activity” (NEDA) standard (Stangel, 2015) measured by relapses, progression of disability and new and/or enlarging demyelinating lesions as seen on MRI.</p> <p><strong>Updated data for 2018</strong>: Duration of illness, clinical course of MS, EDSS</p> <p><strong>Updated data</strong> <strong>for 2020-22 years:</strong> EDSS 2020 and EDSS 2022, CRP (ug/mL), µg/ml, 25-OH-Vitamin D (ng/mL), Total IgE (IU/mL), Endotoxin (LPS), EU/m, Human LBP (ng/mL), EndoCab IgA, AMU/ml, EndoCab IgG, GMU/ml, EndoCab IgG, GMU/ml.</p>
Angiotensin Converting Enzyme Gene Polymorphism in Children With Idiopathic Nephrotic Syndrome
ClinicalTrials.gov study NCT00172276. IPD Sharing: Not stated. Countries: 0. Publications: 0.
Gene copy number polymorphism, a major source of genetic variation between humans
GEO Series GSE4981. Homo sapiens. 9 samples. Type: Genome variation profiling by array.
Effect of CovR polymorphisms on GAS gene expression
GEO Series GSE32106. Streptococcus pyogenes. 10 samples. Type: Expression profiling by array.
Polymorphism in exercise genes and respiratory function in late-onset Pompe disease
<p>This database includes the raw data linked with the paper “ Polymorphism in exercise genes and respiratory function in late-onset Pompe disease ” published on “JOURNAL OF APPLIED PHYSIOLOGY”. In this paper, we reported the influence of polymoprhisms in exercise genes and muscle metabolism, on the clinical phenotype of late onset pomep disease, especially on the respiratory phenotype</p> <p>We included 43 patients with LOPD (25 males, age 50.8 ± 13.6 yr) with a 2-yr follow-up since the beginning of enzyme replacement therapy (ERT). Twenty-two patients showed a postural drop >25% T0, seven other patients developed it during the follow-up. We analyzed the relationship between the progression of respiratory dysfunction and genetic polymorphisms affecting muscle function and structure [angiotensin converting enzyme (ACE), a-actinin 3 (ACTN3), peroxisome proliferator-activated receptor a (PPR-a), angiotensin (AGT)], glycogen metabolism [glycogen synthase (GYS), glycogen synthase kinase-3 isoform b (GSK3b)], and autophagy [sirtuin 1 (SIRT1), autophagy-related gene 7 (ATG7)].</p> <p>ACE-DD and ACTN3-XX polymorphisms, possibly influencing muscle properties and fiber composition, were associated with more severe respiratory phenotypes</p> <p> </p> <table align="left"> <tbody> <tr> <td> <p> </p> </td> </tr> </tbody> </table>
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population
<p>Many physiological processes in the human body follow a 24-h circadian rhythm controlled by the circadian clock system. Light, sensed by retina, is the predominant "zeitgeber" able to synchronize the circadian rhythms to the light-dark cycles. Circadian rhythm dysfunction and sleep disorders have been associated with aging and neurodegenerative diseases including mild cognitive impairment (MCI) and Alzheimer's disease (AD). In the present study, we aimed at investigating the genetic variability of clock genes in AD patients compared to healthy controls from Italy. We also included a group of Italian centenarians, considered as super-controls in association studies given their extreme phenotype of successful aging. We analyzed the exon sequences of eighty-four genes related to circadian rhythms, and the most significant variants identified in this first discovery phase were further assessed in a larger independent cohort of AD patients by matrix assisted laser desorption/ionization-time of flight mass spectrometry. The results identified a significant association between the rs3027178 polymorphism in the PER1 circadian gene with AD, the G allele being protective for AD. Interestingly, rs3027178 showed similar genotypic frequencies among AD patients and centenarians. These results collectively underline the relevance of circadian dysfunction in the predisposition to AD and contribute to the discussion on the role of the relationship between the genetics of age-related diseases and of longevity.</p>
Pleiotropic effects of the gene diacylglycerol-O-transferase 1 (DGAT1) polymorphism in the mammary gland tissue of dairy cows
GEO Series GSE33720. Bos taurus. 28 samples. Type: Expression profiling by array.
Impact of Polymorphisms on Gene Expression and Splicing in Response to Exercise and Diet-induced Weight-loss in Human Skeletal Muscle Tissues
<p>This is the comprehensive datasets pre-intervention and post-intervention in Singapore Adult Metabolism Study-2</p> <p>Including the clinical data, full e/sQTL summary statistics, and significant e/sQTL summary statistics.</p>
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Allen Brain Atlas
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International Brain Laboratory public data
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OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.