| D011110 |
Polymorphism, Genetic |
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. |
Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic |
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| D003062 |
Codon |
A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE). |
Codon, Sense,Sense Codon,Codons,Codons, Sense,Sense Codons |
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| D004067 |
Digestive System Neoplasms |
Tumors or cancer of the DIGESTIVE SYSTEM. |
Cancer of Digestive System,Digestive System Cancer,Cancer of the Digestive System,Neoplasms, Digestive System,Cancer, Digestive System,Cancers, Digestive System,Digestive System Cancers,Digestive System Neoplasm,Neoplasm, Digestive System |
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| D005838 |
Genotype |
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. |
Genogroup,Genogroups,Genotypes |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000483 |
Alleles |
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. |
Allelomorphs,Allele,Allelomorph |
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| D016017 |
Odds Ratio |
The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases. |
Cross-Product Ratio,Risk Ratio,Relative Odds,Cross Product Ratio,Cross-Product Ratios,Odds Ratios,Odds, Relative,Ratio, Cross-Product,Ratio, Risk,Ratios, Cross-Product,Ratios, Risk,Risk Ratios |
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| D016022 |
Case-Control Studies |
Comparisons that start with the identification of persons with the disease or outcome of interest and a control (comparison, referent) group without the disease or outcome of interest. The relationship of an attribute is examined by comparing both groups with regard to the frequency or levels of outcome over time. |
Case-Base Studies,Case-Comparison Studies,Case-Referent Studies,Matched Case-Control Studies,Nested Case-Control Studies,Case Control Studies,Case-Compeer Studies,Case-Referrent Studies,Case Base Studies,Case Comparison Studies,Case Control Study,Case Referent Studies,Case Referrent Studies,Case-Comparison Study,Case-Control Studies, Matched,Case-Control Studies, Nested,Case-Control Study,Case-Control Study, Matched,Case-Control Study, Nested,Case-Referent Study,Case-Referrent Study,Matched Case Control Studies,Matched Case-Control Study,Nested Case Control Studies,Nested Case-Control Study,Studies, Case Control,Studies, Case-Base,Studies, Case-Comparison,Studies, Case-Compeer,Studies, Case-Control,Studies, Case-Referent,Studies, Case-Referrent,Studies, Matched Case-Control,Studies, Nested Case-Control,Study, Case Control,Study, Case-Comparison,Study, Case-Control,Study, Case-Referent,Study, Case-Referrent,Study, Matched Case-Control,Study, Nested Case-Control |
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| D051795 |
Hypoxia-Inducible Factor 1, alpha Subunit |
Hypoxia-inducible factor 1, alpha subunit is a basic helix-loop-helix transcription factor that is regulated by OXYGEN availability and is targeted for degradation by VHL TUMOR SUPPRESSOR PROTEIN. |
Hypoxia Inducible Factor 1, alpha Subunit |
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| D019943 |
Amino Acid Substitution |
The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties. |
Amino Acid Substitutions,Substitution, Amino Acid,Substitutions, Amino Acid |
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