| 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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| D002352 |
Carrier Proteins |
Proteins that bind or transport specific substances in the blood, within the cell, or across cell membranes. |
Binding Proteins,Carrier Protein,Transport Protein,Transport Proteins,Binding Protein,Protein, Carrier,Proteins, Carrier |
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| D002446 |
Celiac Disease |
A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION. |
Gluten Enteropathy,Sprue, Celiac,Sprue, Nontropical,Celiac Sprue,Gluten-Sensitive Enteropathy,Sprue,Disease, Celiac,Enteropathies, Gluten,Enteropathies, Gluten-Sensitive,Enteropathy, Gluten,Enteropathy, Gluten-Sensitive,Gluten Enteropathies,Gluten Sensitive Enteropathy,Gluten-Sensitive Enteropathies,Nontropical Sprue |
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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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| D000071181 |
ATP Binding Cassette Transporter, Subfamily B, Member 2 |
An ATP-binding cassette, sub-family B protein (ATP BINDING CASSETTE TRANSPORTER, SUBFAMILY B) that functions in the transport of ANTIGENS from the CYTOPLASM to the ENDOPLASMIC RETICULUM for association with HISTOCOMPATIBILITY ANTIGENS CLASS I peptides. It also acts as a molecular scaffold for the final stage of MHC class I PROTEIN FOLDING. |
ABCB2 Protein,ATP Binding Cassette Transporter, Sub-Family B, Member 2,ATP-Binding Cassette Sub-Family B Member 2,Antigen Peptide Transporter-1,Peptide Transporter PSF1,Peptide Transporter TAP1,RING4 Protein,Really Interesting New Gene 4 Protein,TAP-1 Protein,TAP1 Protein,Transporter 1, ATP-Binding Cassette, Sub-Family B (MDR-TAP),ATP Binding Cassette Sub Family B Member 2,Antigen Peptide Transporter 1,PSF1, Peptide Transporter,TAP 1 Protein,TAP1, Peptide Transporter |
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| D000071450 |
ATP Binding Cassette Transporter, Subfamily B, Member 3 |
ATP-binding cassette, subfamily B, protein that functions in the transport of ANTIGENS from the CYTOPLASM to the ENDOPLASMIC RETICULUM for association with HISTOCOMPATIBILITY ANTIGENS CLASS I peptides. It functions as a heterodimer with ATP BINDING CASSETTE TRANSPORTER, SUBFAMILY B, MEMBER 2. |
ABCB3 Protein,ATP Binding Cassette Transporter, Sub-Family B, Member 3,ATP-Binding Cassette, Sub-Family B, Member 3,Antigen Peptide Transporter-2,Peptide Supply Factor 2,Peptide Transporter Tap2,Antigen Peptide Transporter 2,Tap2, Peptide Transporter |
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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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| D000949 |
Histocompatibility Antigens Class II |
Large, transmembrane, non-covalently linked glycoproteins (alpha and beta). Both chains can be polymorphic although there is more structural variation in the beta chains. The class II antigens in humans are called HLA-D ANTIGENS and are coded by a gene on chromosome 6. In mice, two genes named IA and IE on chromosome 17 code for the H-2 antigens. The antigens are found on B-lymphocytes, macrophages, epidermal cells, and sperm and are thought to mediate the competence of and cellular cooperation in the immune response. The term IA antigens used to refer only to the proteins encoded by the IA genes in the mouse, but is now used as a generic term for any class II histocompatibility antigen. |
Antigens, Immune Response,Class II Antigens,Class II Histocompatibility Antigen,Class II Major Histocompatibility Antigen,Ia Antigens,Ia-Like Antigen,Ia-Like Antigens,Immune Response Antigens,Immune-Associated Antigens,Immune-Response-Associated Antigens,MHC Class II Molecule,MHC II Peptide,Class II Antigen,Class II Histocompatibility Antigens,Class II MHC Proteins,Class II Major Histocompatibility Antigens,Class II Major Histocompatibility Molecules,I-A Antigen,I-A-Antigen,IA Antigen,MHC Class II Molecules,MHC II Peptides,MHC-II Molecules,Antigen, Class II,Antigen, I-A,Antigen, IA,Antigen, Ia-Like,Antigens, Class II,Antigens, Ia,Antigens, Ia-Like,Antigens, Immune-Associated,Antigens, Immune-Response-Associated,I A Antigen,II Peptide, MHC,Ia Like Antigen,Ia Like Antigens,Immune Associated Antigens,Immune Response Associated Antigens,MHC II Molecules,Molecules, MHC-II,Peptide, MHC II,Peptides, MHC II |
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| D015810 |
Linkage Disequilibrium |
Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone. |
Disequilibrium, Linkage,Disequilibriums, Linkage,Linkage Disequilibriums |
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| D018528 |
ATP-Binding Cassette Transporters |
A family of MEMBRANE TRANSPORT PROTEINS that require ATP hydrolysis for the transport of substrates across membranes. The protein family derives its name from the ATP-binding domain found on the protein. |
ABC Transporter,ABC Transporters,ATP-Binding Cassette Transporter,ATP Binding Cassette Transporter,ATP Binding Cassette Transporters,Cassette Transporter, ATP-Binding,Transporter, ABC,Transporter, ATP-Binding Cassette,Transporters, ABC,Transporters, ATP-Binding Cassette |
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