Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.
PMID 14645206 · PMC3707088 · Human molecular genetics · 2004 · 8 claims · 5 setups
The minor (rare) allele of CRP SNP 'CRP 4' is associated/linked with development of SLE in family-based transmission studies.
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Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.
PMID 17477860 · PMC1871603 · BMC genetics · 2007 · 7 claims · 5 setups
DGAT2 is a plausible positional and functional candidate gene for obesity due to its localization at chr.11q13 (a linkage region) and its key role in triglyceride synthesis
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Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.
PMID 18053270 · PMC2222245 · BMC medical genetics · 2007 · 8 claims · 6 setups
PITX1 polymorphisms and haplotypes are significantly associated with autism
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Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes.
PMID 16504056 · PMC1402321 · BMC genetics · 2006 · 7 claims · 8 setups
No statistical evidence of a major association between T1D and any of the interferon or interferon-related genes tested (IFNA cluster, IFNB1, IFNW1, IFNG, ICSBP1)
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Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.
PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups
Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls
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Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.
PMID 18334955 · PMC2268852 · Molecular vision · 2008 · 7 claims · 4 setups
MFRP mutations were previously reported to cause nanophthalmos and a distinct microphthalmos/retinitis pigmentosa/foveoschisis syndrome, motivating it as a candidate gene for axial length regulation
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Association of GSK3B with Alzheimer disease and frontotemporal dementia.
PMID 18852354 · PMC2841136 · Archives of neurology · 2008 · 8 claims · 5 setups
The GSK3B intronic polymorphism IVS2-68G>A is associated with increased risk of AD and FTD in a case-control cohort
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MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.
PMID 18154640 · PMC2233610 · BMC medical genetics · 2007 · 8 claims · 6 setups
Chromosome 8p23.1 has previously been proposed as a nuclear modifier locus for A1555G-associated hearing loss phenotype
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Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy.
PMID 16336695 · PMC1325232 · Respiratory research · 2005 · 6 claims · 8 setups
There is overall little sequence variation in the conserved non-coding elements (CNEs) on 5q31, including none detected in CNE-B/CNS-1
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Approaching the genomics of risk-taking behavior.
PMID 20109660 · PMC3961474 · Advances in genetics · 2009 · 8 claims · 8 setups
Candidate genes (e.g., DRD4, SERT, MAOA) explain only a small fraction of total genetic variation in risk-taking-related behaviors, motivating a whole-genome approach.