| Name |
|---|
TRAV23DV6 GeneT cell receptor alpha variable 23/delta variable 6 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV29DV5 GeneT cell receptor alpha variable 29/delta variable 5 (gene/pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV14DV4 GeneT cell receptor alpha variable 14/delta variable 4 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV36DV7 GeneT cell receptor alpha variable 36/delta variable 7 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV38-2DV8 GeneT cell receptor alpha variable 38-2/delta variable 8 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
IGLVI-38 Geneimmunoglobulin lambda variable (I)-38 (pseudogene) |
IGKV1OR10-1 Geneimmunoglobulin kappa variable 1/OR10-1 (pseudogene) |
IGHVII-60-1 Geneimmunoglobulin heavy variable (II)-60-1 (pseudogene) |
IGHV1-8 Geneimmunoglobulin heavy variable 1-8 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV1-3 Geneimmunoglobulin heavy variable 1-3 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV1-2 Geneimmunoglobulin heavy variable 1-2 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV4-4 Geneimmunoglobulin heavy variable 4-4 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1-12 Geneimmunoglobulin kappa variable 1-12 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1-16 Geneimmunoglobulin kappa variable 1-16 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1-17 Geneimmunoglobulin kappa variable 1-17 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV5-78 Geneimmunoglobulin heavy variable 5-78 (pseudogene) |
TRBV20-1 GeneT cell receptor beta variable 20-1 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV1-36 Geneimmunoglobulin lambda variable 1-36 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV2-36 Geneimmunoglobulin kappa variable 2-36 (pseudogene) |
IGKV2-30 Geneimmunoglobulin kappa variable 2-30 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV2-38 Geneimmunoglobulin kappa variable 2-38 (pseudogene) |
IGHVIII-26-1 Geneimmunoglobulin heavy variable (III)-26-1 (pseudogene) |
IGHV1-69-2 Geneimmunoglobulin heavy variable 1-69-2 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV1-45 Geneimmunoglobulin heavy variable 1-45 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV1-38-4 Geneimmunoglobulin heavy variable 1-38-4 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV2OR2-8 Geneimmunoglobulin kappa variable 2/OR2-8 (pseudogene) |
IGKV2D-14 Geneimmunoglobulin kappa variable 2D-14 (pseudogene) |
IGKV2D-10 Geneimmunoglobulin kappa variable 2D-10 (pseudogene) |
IGKV2D-18 Geneimmunoglobulin kappa variable 2D-18 (pseudogene) |
IGKV2D-19 Geneimmunoglobulin kappa variable 2D-19 (pseudogene) |
TRBV6-8 GeneT cell receptor beta variable 6-8 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV6-9 GeneT cell receptor beta variable 6-9 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV6-5 GeneT cell receptor beta variable 6-5 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV6-6 GeneT cell receptor beta variable 6-6 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV6-7 GeneT cell receptor beta variable 6-7 (non-functional) Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV6-2 GeneT cell receptor beta variable 6-2 (gene/pseudogene) Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV6-3 GeneT cell receptor beta variable 6-3 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV21-1 GeneT cell receptor beta variable 21-1 (pseudogene) |
IGHV3OR16-7 Geneimmunoglobulin heavy variable 3/OR16-7 (pseudogene) |
IGHV3-69-1 Geneimmunoglobulin heavy variable 3-69-1 (pseudogene) |
TRBV23OR9-2 GeneT cell receptor beta variable 23/OR9-2 (non-functional) |
IGLV5-45 Geneimmunoglobulin lambda variable 5-45 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV5-48 Geneimmunoglobulin lambda variable 5-48 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV30 GeneT cell receptor beta variable 30 (gene/pseudogene) Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IGHVII-22-1 Geneimmunoglobulin heavy variable (II)-22-1 (pseudogene) |
IGKV3-11 Geneimmunoglobulin kappa variable 3-11 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV3-15 Geneimmunoglobulin kappa variable 3-15 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in blood microparticle. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-37 Geneimmunoglobulin heavy variable 3-37 (pseudogene) |
IGHV3-36 Geneimmunoglobulin heavy variable 3-36 (pseudogene) |
IGHV3-35 Geneimmunoglobulin heavy variable 3-35 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-33 Geneimmunoglobulin heavy variable 3-33 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-32 Geneimmunoglobulin heavy variable 3-32 (pseudogene) |
IGHV3-30 Geneimmunoglobulin heavy variable 3-30 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-38 Geneimmunoglobulin heavy variable 3-38 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV3-1 GeneT cell receptor beta variable 3-1 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV7-9 GeneT cell receptor beta variable 7-9 Predicted to enable MHC protein binding activity and peptide antigen binding activity. Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV7-8 GeneT cell receptor beta variable 7-8 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV7-1 GeneT cell receptor beta variable 7-1 (non-functional) Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV7-3 GeneT cell receptor beta variable 7-3 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV7-2 GeneT cell receptor beta variable 7-2 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV7-5 GeneT cell receptor beta variable 7-5 (pseudogene) |
TRBV7-4 GeneT cell receptor beta variable 7-4 (gene/pseudogene) Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV7-7 GeneT cell receptor beta variable 7-7 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV7-6 GeneT cell receptor beta variable 7-6 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1-13 Geneimmunoglobulin kappa variable 1-13 (gene/pseudogene) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV3-7 Geneimmunoglobulin kappa variable 3-7 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV8-61 Geneimmunoglobulin lambda variable 8-61 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRAV5 GeneT cell receptor alpha variable 5 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
IGLV2-28 Geneimmunoglobulin lambda variable 2-28 (pseudogene) |
IGLV2-23 Geneimmunoglobulin lambda variable 2-23 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV1-12 Geneimmunoglobulin heavy variable 1-12 (pseudogene) |
IGHV1-14 Geneimmunoglobulin heavy variable 1-14 (pseudogene) |
IGHV3OR16-13 Geneimmunoglobulin heavy variable 3/OR16-13 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV7-34-1 Geneimmunoglobulin heavy variable 7-34-1 (pseudogene) |
IGHV3-30-2 Geneimmunoglobulin heavy variable 3-30-2 (pseudogene) |
IGHV3-30-3 Geneimmunoglobulin heavy variable 3-30-3 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-30-5 Geneimmunoglobulin heavy variable 3-30-5 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLVIV-53 Geneimmunoglobulin lambda variable (IV)-53 (pseudogene) |
IGLVIV-59 Geneimmunoglobulin lambda variable (IV)-59 (pseudogene) |
IGLVIVOR22-2 Geneimmunoglobulin lambda variable (IV)/OR22-2 (pseudogene) |
IGLVIVOR22-1 Geneimmunoglobulin lambda variable (IV)/OR22-1 (pseudogene) |
IGHV4-38-2 Geneimmunoglobulin heavy variable 4-38-2 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV5P GeneT cell receptor gamma variable 5P (pseudogene) |
IGKV2D-29 Geneimmunoglobulin kappa variable 2D-29 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV2D-28 Geneimmunoglobulin kappa variable 2D-28 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV2D-24 Geneimmunoglobulin kappa variable 2D-24 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV2D-26 Geneimmunoglobulin kappa variable 2D-26 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV2D-23 Geneimmunoglobulin kappa variable 2D-23 (pseudogene) |
IGKV1D-8 Geneimmunoglobulin kappa variable 1D-8 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV7-35 Geneimmunoglobulin lambda variable 7-35 (pseudogene) |
TRGV10 GeneT cell receptor gamma variable 10 (non-functional) Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHVII-49-1 Geneimmunoglobulin heavy variable (II)-49-1 (pseudogene) |
IGHV1OR15-2 Geneimmunoglobulin heavy variable 1/OR15-2 (pseudogene) |
IGHV1OR15-3 Geneimmunoglobulin heavy variable 1/OR15-3 (pseudogene) |
IGHV1OR15-1 Geneimmunoglobulin heavy variable 1/OR15-1 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV1OR15-6 Geneimmunoglobulin heavy variable 1/OR15-6 (pseudogene) |
IGHV1OR15-4 Geneimmunoglobulin heavy variable 1/OR15-4 (pseudogene) |
IGHV1OR15-9 Geneimmunoglobulin heavy variable 1/OR15-9 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV21OR9-2 GeneT cell receptor beta variable 21/OR9-2 (pseudogene) |
IGHVII-30-1 Geneimmunoglobulin heavy variable (II)-30-1 (pseudogene) |
IGHV2-70 Geneimmunoglobulin heavy variable 2-70 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1OR2-9 Geneimmunoglobulin kappa variable 1/OR2-9 (pseudogene) |
IGKV1D-22 Geneimmunoglobulin kappa variable 1D-22 (pseudogene) |
IGKV1D-27 Geneimmunoglobulin kappa variable 1D-27 (pseudogene) |
IGHV3-48 Geneimmunoglobulin heavy variable 3-48 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-49 Geneimmunoglobulin heavy variable 3-49 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-47 Geneimmunoglobulin heavy variable 3-47 (pseudogene) |
IGHV3-42 Geneimmunoglobulin heavy variable 3-42 (pseudogene) |
IGHV3-43 Geneimmunoglobulin heavy variable 3-43 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-41 Geneimmunoglobulin heavy variable 3-41 (pseudogene) |
IGLVI-56 Geneimmunoglobulin lambda variable (I)-56 (pseudogene) |
IGHVII-26-2 Geneimmunoglobulin heavy variable (II)-26-2 (pseudogene) |
IGKV2OR2-10 Geneimmunoglobulin kappa variable 2/OR2-10 (pseudogene) |
IGKV1ORY-1 Geneimmunoglobulin kappa variable 1/ORY-1 (pseudogene) |
IGHV3-43D Geneimmunoglobulin heavy variable 3-43D |
IGHVIII-44 Geneimmunoglobulin heavy variable (III)-44 (pseudogene) |
IGHV3-11 Geneimmunoglobulin heavy variable 3-11 (gene/pseudogene) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV10-54 Geneimmunoglobulin lambda variable 10-54 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHVII-31-1 Geneimmunoglobulin heavy variable (II)-31-1 (pseudogene) |
IGLV1-51 Geneimmunoglobulin lambda variable 1-51 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV1-50 Geneimmunoglobulin lambda variable 1-50 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV7-40 Geneimmunoglobulin heavy variable 7-40 (pseudogene) |
TRBV11-3 GeneT cell receptor beta variable 11-3 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV11-1 GeneT cell receptor beta variable 11-1 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100290036 Geneimmunglobulin heavy chain variable region |
TRAV20 GeneT cell receptor alpha variable 20 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRBV24-1 GeneT cell receptor beta variable 24-1 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV7-46 Geneimmunoglobulin lambda variable 7-46 (gene/pseudogene) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV7-43 Geneimmunoglobulin lambda variable 7-43 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHVII-44-2 Geneimmunoglobulin heavy variable (II)-44-2 (pseudogene) |
IGHVIII-2-1 Geneimmunoglobulin heavy variable (III)-2-1 (pseudogene) |
IGHVIII-16-1 Geneimmunoglobulin heavy variable (III)-16-1 (pseudogene) |
IGHV2-70D Geneimmunoglobulin heavy variable 2-70D Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV1-67 Geneimmunoglobulin heavy variable 1-67 (pseudogene) |
IGHV1-68 Geneimmunoglobulin heavy variable 1-68 (pseudogene) |
IGHV1-69 Geneimmunoglobulin heavy variable 1-69 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV4-39 Geneimmunoglobulin heavy variable 4-39 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV4-31 Geneimmunoglobulin heavy variable 4-31 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV10-2 GeneT cell receptor beta variable 10-2 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV10-3 GeneT cell receptor beta variable 10-3 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV10-1 GeneT cell receptor beta variable 10-1(gene/pseudogene) Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV2-26 Geneimmunoglobulin heavy variable 2-26 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1OR15-118 Geneimmunoglobulin kappa variable 1/OR15-118 (pseudogene) |
IGKV3D-7 Geneimmunoglobulin kappa variable 3D-7 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV25-1 GeneT cell receptor beta variable 25-1 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV6D-41 Geneimmunoglobulin kappa variable 6D-41 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV4OR15-8 Geneimmunoglobulin heavy variable 4/OR15-8 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV3-32 Geneimmunoglobulin lambda variable 3-32 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV3-31 Geneimmunoglobulin lambda variable 3-31 (pseudogene) |
IGLV3-30 Geneimmunoglobulin lambda variable 3-30 (pseudogene) |
TRBV17 GeneT cell receptor beta variable 17 (non-functional) Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV16 GeneT cell receptor beta variable 16 (gene/pseudogene) Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV15 GeneT cell receptor beta variable 15 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV14 GeneT cell receptor beta variable 14 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV13 GeneT cell receptor beta variable 13 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV19 GeneT cell receptor beta variable 19 Predicted to be involved in cell surface receptor signaling pathway. Part of alpha-beta T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV18 GeneT cell receptor beta variable 18 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRDV1 GeneT cell receptor delta variable 1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRDV3 GeneT cell receptor delta variable 3 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRDV2 GeneT cell receptor delta variable 2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
IGLV10-67 Geneimmunoglobulin lambda variable 10-67 (pseudogene) |
IGKV2-4 Geneimmunoglobulin kappa variable 2-4 (pseudogene) |
IGKV3-34 Geneimmunoglobulin kappa variable 3-34 (pseudogene) |
IGKV3-31 Geneimmunoglobulin kappa variable 3-31 (pseudogene) |
IGKV3OR2-5 Geneimmunoglobulin kappa variable 3/OR2-5 (pseudogene) |
TRBVAOR9-2 GeneT cell receptor beta variable A/OR9-2 (pseudogene) |
IGHV3-19 Geneimmunoglobulin heavy variable 3-19 (pseudogene) |
IGHV3-15 Geneimmunoglobulin heavy variable 3-15 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-16 Geneimmunoglobulin heavy variable 3-16 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-13 Geneimmunoglobulin heavy variable 3-13 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in blood microparticle. [provided by Alliance of Genome Resources, Mar 2025] |
IGLVI-20 Geneimmunoglobulin lambda variable (I)-20 (pseudogene) |
IGHVII-43-1 Geneimmunoglobulin heavy variable (II)-43-1 (pseudogene) |
IGHV4-55 Geneimmunoglobulin heavy variable 4-55 (pseudogene) |
LOC391405 Geneimmunoglobulin kappa light chain variable region |
IGKV1-27 Geneimmunoglobulin kappa variable 1-27 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1-22 Geneimmunoglobulin kappa variable 1-22 (pseudogene) |
IGHVIV-44-1 Geneimmunoglobulin heavy variable (IV)-44-1 (pseudogene) |
IGHV4-34 Geneimmunoglobulin heavy variable 4-34 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV2-23 Geneimmunoglobulin kappa variable 2-23 (pseudogene) |
IGKV2-26 Geneimmunoglobulin kappa variable 2-26 (pseudogene) |
IGKV2-28 Geneimmunoglobulin kappa variable 2-28 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV2-29 Geneimmunoglobulin kappa variable 2-29 (gene/pseudogene) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHVIII-47-1 Geneimmunoglobulin heavy variable (III)-47-1 (pseudogene) |
IGHVII-40-1 Geneimmunoglobulin heavy variable (II)-40-1 (pseudogene) |
TRBV6-4 GeneT cell receptor beta variable 6-4 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV6-1 GeneT cell receptor beta variable 6-1 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IGLVVI-25-1 Geneimmunoglobulin lambda variable (VI)-25-1 (pseudogene) |
IGHV6-1 Geneimmunoglobulin heavy variable 6-1 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1OR-3 Geneimmunoglobulin kappa variable 1/OR-3 (pseudogene) |
IGKV1OR-2 Geneimmunoglobulin kappa variable 1/OR-2 (pseudogene) |
IGKV1OR-4 Geneimmunoglobulin kappa variable 1/OR-4 (pseudogene) |
IGLVVII-41-1 Geneimmunoglobulin lambda variable (VII)-41-1 (pseudogene) |
IGHVII-65-1 Geneimmunoglobulin heavy variable (II)-65-1 (pseudogene) |
IGKV2OR22-3 Geneimmunoglobulin kappa variable 2/OR22-3 (pseudogene) |
IGKV2OR22-4 Geneimmunoglobulin kappa variable 2/OR22-4 (pseudogene) |
IGHVII-53-1 Geneimmunoglobulin heavy variable (II)-53-1 (pseudogene) |
IGLV@ Geneimmunoglobulin lambda variable cluster Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains (see MIM 147100) and 2 identical light chains, either kappa (see MIM 147200) or lambda, joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. The kappa and lambda light chains have no apparent functional differences. Each Ig lambda light chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by a C region gene (IGLC1; MIM 147220), that provides signaling functions. The lambda light chain V region is encoded by 2 types of genes: V genes and joining (J) genes (see MIM 147230). Random selection of just 1 gene of each type to assemble a V region accounts for the great diversity of V regions among Ig molecules. The lambda light chain locus on chromosome 22 contains approximately 30 functional V genes, followed by approximately 4 functional J genes. Due to polymorphism, the numbers of functional V and J genes differ among individuals (Janeway et al., 2005).[supplied by OMIM, Apr 2008] |
IGHV4-61 Geneimmunoglobulin heavy variable 4-61 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHVII-62-1 Geneimmunoglobulin heavy variable (II)-62-1 (pseudogene) |
IGHVII-20-1 Geneimmunoglobulin heavy variable (II)-20-1 (pseudogene) |
IGHVII-28-1 Geneimmunoglobulin heavy variable (II)-28-1 (pseudogene) |
IGLV5-37 Geneimmunoglobulin lambda variable 5-37 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV5-39 Geneimmunoglobulin lambda variable 5-39 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV28 GeneT cell receptor beta variable 28 Predicted to enable peptide antigen binding activity. Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV26 GeneT cell receptor beta variable 26 (pseudogene) |
IGHV3OR16-12 Geneimmunoglobulin heavy variable 3/OR16-12 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3OR16-11 Geneimmunoglobulin heavy variable 3/OR16-11 (pseudogene) |
IGHV3OR16-10 Geneimmunoglobulin heavy variable 3/OR16-10 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3OR16-16 Geneimmunoglobulin heavy variable 3/OR16-16 (pseudogene) |
IGHV3OR16-15 Geneimmunoglobulin heavy variable 3/OR16-15 (pseudogene) |
IGKV2-24 Geneimmunoglobulin kappa variable 2-24 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
BIVM Genebasic, immunoglobulin-like variable motif containing Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV4-60 Geneimmunoglobulin lambda variable 4-60 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV4-69 Geneimmunoglobulin lambda variable 4-69 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-25 Geneimmunoglobulin heavy variable 3-25 (pseudogene) |
IGHV3-20 Geneimmunoglobulin heavy variable 3-20 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-21 Geneimmunoglobulin heavy variable 3-21 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-22 Geneimmunoglobulin heavy variable 3-22 (pseudogene) |
IGHV3-23 Geneimmunoglobulin heavy variable 3-23 IGHV3-23 belongs to a cluster of approximately 40 functional variable (V) genes in the immunoglobulin (Ig) heavy chain locus on chromosome 14. For background information on the Ig heavy chain and the V gene cluster, see (MIM 147070).[supplied by OMIM, Apr 2008] |
IGLVI-70 Geneimmunoglobulin lambda variable (I)-70 (pseudogene) |
IGHV3-29 Geneimmunoglobulin heavy variable 3-29 (pseudogene) |
IGHV7-27 Geneimmunoglobulin heavy variable 7-27 (pseudogene) |
IGHV3OR15-7 Geneimmunoglobulin heavy variable 3/OR15-7 (pseudogene) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
LOC390714 Geneimmunoglobulin heavy chain variable region Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV3D-20 Geneimmunoglobulin kappa variable 3D-20 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV3D-25 Geneimmunoglobulin kappa variable 3D-25 (pseudogene) |
IGHVII-15-1 Geneimmunoglobulin heavy variable (II)-15-1 (pseudogene) |
IGLVVI-22-1 Geneimmunoglobulin lambda variable (VI)-22-1 (pseudogene) |
TRAV31 GeneT cell receptor alpha variable 31 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
VCX Genevariable charge, X-linked This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 10 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008] |
VCY Genevariable charge, Y-linked The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008] |
IGHVIII-25-1 Geneimmunoglobulin heavy variable (III)-25-1 (pseudogene) |
IGLV2-34 Geneimmunoglobulin lambda variable 2-34 (pseudogene) |
IGLV2-33 Geneimmunoglobulin lambda variable 2-33 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV20OR9-2 GeneT cell receptor beta variable 20/OR9-2 (non-functional) Predicted to be involved in cell surface receptor signaling pathway. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRAV2 GeneT cell receptor alpha variable 2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV3 GeneT cell receptor alpha variable 3 (gene/pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV4 GeneT cell receptor alpha variable 4 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV6 GeneT cell receptor alpha variable 6 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV7 GeneT cell receptor alpha variable 7 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
IGHVIII-67-4 Geneimmunoglobulin heavy variable (III)-67-4 (pseudogene) |
IGHVIII-67-2 Geneimmunoglobulin heavy variable (III)-67-2 (pseudogene) |
IGHVIII-67-3 Geneimmunoglobulin heavy variable (III)-67-3 (pseudogene) |
IGKV1OR2-3 Geneimmunoglobulin kappa variable 1/OR2-3 (pseudogene) |
IGKV1OR2-0 Geneimmunoglobulin kappa variable 1/OR2-0 (non-functional) |
IGKV1OR2-1 Geneimmunoglobulin kappa variable 1/OR2-1 (pseudogene) |
IGKV1OR2-6 Geneimmunoglobulin kappa variable 1/OR2-6 (pseudogene) |
IGLV6-57 Geneimmunoglobulin lambda variable 6-57 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRAV22 GeneT cell receptor alpha variable 22 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV21 GeneT cell receptor alpha variable 21 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV27 GeneT cell receptor alpha variable 27 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV25 GeneT cell receptor alpha variable 25 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV24 GeneT cell receptor alpha variable 24 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV28 GeneT cell receptor alpha variable 28 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRBV25OR9-2 GeneT cell receptor beta variable 25/OR9-2 (pseudogene) |
IGHV3OR16-9 Geneimmunoglobulin heavy variable 3/OR16-9 (non-functional) Predicted to be involved in adaptive immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3OR16-8 Geneimmunoglobulin heavy variable 3/OR16-8 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV1OR15-5 Geneimmunoglobulin heavy variable 1/OR15-5 (non-functional) |
IGHV2-5 Geneimmunoglobulin heavy variable 2-5 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV4-59 Geneimmunoglobulin heavy variable 4-59 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1OR22-1 Geneimmunoglobulin kappa variable 1/OR22-1 (pseudogene) |
IGKV1OR22-5 Geneimmunoglobulin kappa variable 1/OR22-5 (pseudogene) |
IGKV6D-21 Geneimmunoglobulin kappa variable 6D-21 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-33-2 Geneimmunoglobulin heavy variable 3-33-2 (pseudogene) |
TRBV22OR9-2 GeneT cell receptor beta variable 22/OR9-2 (pseudogene) |
TRGV6 GeneT cell receptor gamma variable 6 (pseudogene) |
TRGV7 GeneT cell receptor gamma variable 7 (pseudogene) |
TRGV4 GeneT cell receptor gamma variable 4 Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV5 GeneT cell receptor gamma variable 5 Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV2 GeneT cell receptor gamma variable 2 Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV3 GeneT cell receptor gamma variable 3 Predicted to enable MHC protein binding activity and peptide antigen binding activity. Predicted to be involved in immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV1 GeneT cell receptor gamma variable 1 (non-functional) Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV8 GeneT cell receptor gamma variable 8 Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGV9 GeneT cell receptor gamma variable 9 Predicted to enable MHC protein binding activity and peptide antigen binding activity. Predicted to be involved in adaptive immune response and innate immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRGVB GeneT cell receptor gamma variable B (pseudogene) |
TRGVA GeneT cell receptor gamma variable A (pseudogene) |
IGHVIII-22-2 Geneimmunoglobulin heavy variable (III)-22-2 (pseudogene) |
IGKV1D-39 Geneimmunoglobulin kappa variable 1D-39 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1D-33 Geneimmunoglobulin kappa variable 1D-33 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1D-32 Geneimmunoglobulin kappa variable 1D-32 (pseudogene) |
IGKV1D-35 Geneimmunoglobulin kappa variable 1D-35 (pseudogene) |
IGKV1D-37 Geneimmunoglobulin kappa variable 1D-37 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-79 Geneimmunoglobulin heavy variable 3-79 (pseudogene) |
IGHV3-73 Geneimmunoglobulin heavy variable 3-73 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-72 Geneimmunoglobulin heavy variable 3-72 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-71 Geneimmunoglobulin heavy variable 3-71 (pseudogene) |
IGHV3-76 Geneimmunoglobulin heavy variable 3-76 (pseudogene) |
IGHV3-75 Geneimmunoglobulin heavy variable 3-75 (pseudogene) |
IGHV3-74 Geneimmunoglobulin heavy variable 3-74 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLVI-42 Geneimmunoglobulin lambda variable (I)-42 (pseudogene) |
IGLV8OR8-1 Geneimmunoglobulin lambda variable 8/OR8-1 (pseudogene) |
IGKV1OR2-108 Geneimmunoglobulin kappa variable 1/OR2-108 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3OR16-14 Geneimmunoglobulin heavy variable 3/OR16-14 (pseudogene) |
IGHV3OR16-6 Geneimmunoglobulin heavy variable 3/OR16-6 (pseudogene) |
TRAV26-1 GeneT cell receptor alpha variable 26-1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV26-2 GeneT cell receptor alpha variable 26-2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
IGHV3-7 Geneimmunoglobulin heavy variable 3-7 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-6 Geneimmunoglobulin heavy variable 3-6 (pseudogene) |
IGHV3-9 Geneimmunoglobulin heavy variable 3-9 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV22-1 GeneT cell receptor beta variable 22-1 (pseudogene) |
IGHVIII-51-1 Geneimmunoglobulin heavy variable (III)-51-1 (pseudogene) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV1-46 Geneimmunoglobulin heavy variable 1-46 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRAV9-1 GeneT cell receptor alpha variable 9-1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV9-2 GeneT cell receptor alpha variable 9-2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
IGLV3-10 Geneimmunoglobulin lambda variable 3-10 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV3-13 Geneimmunoglobulin lambda variable 3-13 (pseudogene) |
IGLV3-12 Geneimmunoglobulin lambda variable 3-12 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV3-15 Geneimmunoglobulin lambda variable 3-15 (pseudogene) |
IGLV3-17 Geneimmunoglobulin lambda variable 3-17 (pseudogene) |
IGLV3-16 Geneimmunoglobulin lambda variable 3-16 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV3-19 Geneimmunoglobulin lambda variable 3-19 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1OR2-11 Geneimmunoglobulin kappa variable 1/OR2-11 (pseudogene) |
IGKV3D-11 Geneimmunoglobulin kappa variable 3D-11 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV3D-15 Geneimmunoglobulin kappa variable 3D-15 (gene/pseudogene) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV1-41 Geneimmunoglobulin lambda variable 1-41 (pseudogene) |
IGLV1-44 Geneimmunoglobulin lambda variable 1-44 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV1-47 Geneimmunoglobulin lambda variable 1-47 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in blood microparticle. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV11-2 GeneT cell receptor beta variable 11-2 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV2-40 Geneimmunoglobulin kappa variable 2-40 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV7-4-1 Geneimmunoglobulin heavy variable 7-4-1 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1-5 Geneimmunoglobulin kappa variable 1-5 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV4-2 GeneT cell receptor beta variable 4-2 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV4-3 GeneT cell receptor beta variable 4-3 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV4-1 GeneT cell receptor beta variable 4-1 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV2OR2-2 Geneimmunoglobulin kappa variable 2/OR2-2 (pseudogene) |
IGKV2OR2-1 Geneimmunoglobulin kappa variable 2/OR2-1 (pseudogene) |
IGKV2OR2-7 Geneimmunoglobulin kappa variable 2/OR2-7 (pseudogene) |
IGKV2OR2-4 Geneimmunoglobulin kappa variable 2/OR2-4 (pseudogene) |
TRAV18 GeneT cell receptor alpha variable 18 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV19 GeneT cell receptor alpha variable 19 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV10 GeneT cell receptor alpha variable 10 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV11 GeneT cell receptor alpha variable 11 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV16 GeneT cell receptor alpha variable 16 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV17 GeneT cell receptor alpha variable 17 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV15 GeneT cell receptor alpha variable 15 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV8-1 GeneT cell receptor alpha variable 8-1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV8-3 GeneT cell receptor alpha variable 8-3 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV8-2 GeneT cell receptor alpha variable 8-2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV8-5 GeneT cell receptor alpha variable 8-5 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV8-4 GeneT cell receptor alpha variable 8-4 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV8-7 GeneT cell receptor alpha variable 8-7 (non-functional) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV8-6 GeneT cell receptor alpha variable 8-6 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
IGHV1OR16-1 Geneimmunoglobulin heavy variable 1/OR16-1 (pseudogene) |
IGHV1OR16-3 Geneimmunoglobulin heavy variable 1/OR16-3 (pseudogene) |
IGHV1OR16-2 Geneimmunoglobulin heavy variable 1/OR16-2 (pseudogene) |
IGHV1OR16-4 Geneimmunoglobulin heavy variable 1/OR16-4 (pseudogene) |
TRBV5-7 GeneT cell receptor beta variable 5-7 (non-functional) Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV5-6 GeneT cell receptor beta variable 5-6 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV5-5 GeneT cell receptor beta variable 5-5 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV5-4 GeneT cell receptor beta variable 5-4 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV5-3 GeneT cell receptor beta variable 5-3 (non-functional) Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV5-2 GeneT cell receptor beta variable 5-2 (pseudogene) |
TRBV5-1 GeneT cell receptor beta variable 5-1 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV5-8 GeneT cell receptor beta variable 5-8 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV6-21 Geneimmunoglobulin kappa variable 6-21 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV1-58 Geneimmunoglobulin heavy variable 1-58 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHVIII-76-1 Geneimmunoglobulin heavy variable (III)-76-1 (pseudogene) |
IGHV2OR16-5 Geneimmunoglobulin heavy variable 2/OR16-5 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1OR9-1 Geneimmunoglobulin kappa variable 1/OR9-1 (pseudogene) |
TRBV8-2 GeneT cell receptor beta variable 8-2 (pseudogene) |
TRBV8-1 GeneT cell receptor beta variable 8-1 (pseudogene) |
IGHV4-80 Geneimmunoglobulin heavy variable 4-80 (pseudogene) |
IGHV7-81 Geneimmunoglobulin heavy variable 7-81 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV26OR9-2 GeneT cell receptor beta variable 26/OR9-2 (pseudogene) |
VCY1B Genevariable charge, Y-linked 1B The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008] |
IGHV1-24 Geneimmunoglobulin heavy variable 1-24 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV3-29 Geneimmunoglobulin lambda variable 3-29 (pseudogene) |
IGLV3-21 Geneimmunoglobulin lambda variable 3-21 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV3-22 Geneimmunoglobulin lambda variable 3-22 (gene/pseudogene) Predicted to be involved in immune response. Predicted to act upstream of or within apoptotic signaling pathway; negative regulation of stem cell proliferation; and regulation of G1/S transition of mitotic cell cycle. Predicted to be located in cytoplasm and extracellular space. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV3-24 Geneimmunoglobulin lambda variable 3-24 (pseudogene) |
IGLV3-25 Geneimmunoglobulin lambda variable 3-25 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in blood microparticle. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV3-26 Geneimmunoglobulin lambda variable 3-26 (pseudogene) |
IGLV3-27 Geneimmunoglobulin lambda variable 3-27 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV5-52 Geneimmunoglobulin lambda variable 5-52 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
VCX2 Genevariable charge, X-linked 2 This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes that are expressed exclusively in male germ cells. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This gene contains two copies of a 30 nt tandem repeat. Deletion of a nearby member of this family was implicated in cognitive disability. [provided by RefSeq, Feb 2015] |
IGHVII-78-1 Geneimmunoglobulin heavy variable (II)-78-1 (pseudogene) |
IGHV1OR21-1 Geneimmunoglobulin heavy variable 1/OR21-1 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1-35 Geneimmunoglobulin kappa variable 1-35 (pseudogene) |
IGKV1-37 Geneimmunoglobulin kappa variable 1-37 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1-32 Geneimmunoglobulin kappa variable 1-32 (pseudogene) |
IGKV1-33 Geneimmunoglobulin kappa variable 1-33 Enables identical protein binding activity. Predicted to be involved in immune response. Located in blood microparticle. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1-39 Geneimmunoglobulin kappa variable 1-39 (gene/pseudogene) Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV23-1 GeneT cell receptor beta variable 23-1 (non-functional) Predicted to be involved in cell surface receptor signaling pathway. Predicted to be located in immunological synapse. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
FPEVF GeneEpilepsy, partial, with variable foci |
IGHVIII-5-2 Geneimmunoglobulin heavy variable (III)-5-2 (pseudogene) |
IGHVIII-5-1 Geneimmunoglobulin heavy variable (III)-5-1 (pseudogene) |
IGHV5-51 Geneimmunoglobulin heavy variable 5-51 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRAV41 GeneT cell receptor alpha variable 41 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV40 GeneT cell receptor alpha variable 40 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
IGLV2-11 Geneimmunoglobulin lambda variable 2-11 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV2-14 Geneimmunoglobulin lambda variable 2-14 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV2-18 Geneimmunoglobulin lambda variable 2-18 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1-6 Geneimmunoglobulin kappa variable 1-6 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1-8 Geneimmunoglobulin kappa variable 1-8 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1-9 Geneimmunoglobulin kappa variable 1-9 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
DEFA1A3 Genedefensin, alpha 1 and alpha 3, variable copy number locus |
IGHV3-64D Geneimmunoglobulin heavy variable 3-64D Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-38-3 Geneimmunoglobulin heavy variable 3-38-3 (non-functional) Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV4-30-4 Geneimmunoglobulin heavy variable 4-30-4 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV4-30-2 Geneimmunoglobulin heavy variable 4-30-2 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV4-30-1 Geneimmunoglobulin heavy variable 4-30-1 |
IGKV2-19 Geneimmunoglobulin kappa variable 2-19 (pseudogene) |
IGKV2-18 Geneimmunoglobulin kappa variable 2-18 (pseudogene) |
IGKV2-14 Geneimmunoglobulin kappa variable 2-14 (pseudogene) |
IGKV2-10 Geneimmunoglobulin kappa variable 2-10 (pseudogene) |
IGHVIII-38-1 Geneimmunoglobulin heavy variable (III)-38-1 (pseudogene) |
TRAV1-1 GeneT cell receptor alpha variable 1-1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV1-2 GeneT cell receptor alpha variable 1-2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
IGHVIII-82 Geneimmunoglobulin heavy variable (III)-82 (pseudogene) |
IGLV11-55 Geneimmunoglobulin lambda variable 11-55 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLVIV-65 Geneimmunoglobulin lambda variable (IV)-65 (pseudogene) |
IGLVIV-64 Geneimmunoglobulin lambda variable (IV)-64 (pseudogene) |
IGLV1-40 Geneimmunoglobulin lambda variable 1-40 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHVII-33-1 Geneimmunoglobulin heavy variable (II)-33-1 (pseudogene) |
IGKV2D-38 Geneimmunoglobulin kappa variable 2D-38 (pseudogene) |
IGKV2D-36 Geneimmunoglobulin kappa variable 2D-36 (pseudogene) |
IGKV2D-30 Geneimmunoglobulin kappa variable 2D-30 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV5-10-1 Geneimmunoglobulin heavy variable 5-10-1 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV2OR2-7D Geneimmunoglobulin kappa variable 2/OR2-7D (pseudogene) |
IGLV9-49 Geneimmunoglobulin lambda variable 9-49 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV2-8 Geneimmunoglobulin lambda variable 2-8 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV2-5 Geneimmunoglobulin lambda variable 2-5 (pseudogene) |
IGKV3OR2-268 Geneimmunoglobulin kappa variable 3/OR2-268 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHVIII-11-1 Geneimmunoglobulin heavy variable (III)-11-1 (pseudogene) |
IGHVIII-13-1 Geneimmunoglobulin heavy variable (III)-13-1 (pseudogene) |
IGHVII-46-1 Geneimmunoglobulin heavy variable (II)-46-1 (pseudogene) |
TRBV27 GeneT cell receptor beta variable 27 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRAV38-1 GeneT cell receptor alpha variable 38-1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
IGHVII-1-1 Geneimmunoglobulin heavy variable (II)-1-1 (pseudogene) |
IGKV1D-17 Geneimmunoglobulin kappa variable 1D-17 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1D-16 Geneimmunoglobulin kappa variable 1D-16 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1D-13 Geneimmunoglobulin kappa variable 1D-13 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1D-12 Geneimmunoglobulin kappa variable 1D-12 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV3-2 GeneT cell receptor beta variable 3-2 (pseudogene) |
IGLVV-66 Geneimmunoglobulin lambda variable (V)-66 (pseudogene) |
IGHV3-50 Geneimmunoglobulin heavy variable 3-50 (pseudogene) |
IGHV3-53 Geneimmunoglobulin heavy variable 3-53 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-52 Geneimmunoglobulin heavy variable 3-52 (pseudogene) |
IGHV3-54 Geneimmunoglobulin heavy variable 3-54 (pseudogene) |
IGHV3-57 Geneimmunoglobulin heavy variable 3-57 (pseudogene) |
IGLVI-63 Geneimmunoglobulin lambda variable (I)-63 (pseudogene) |
IGLVI-68 Geneimmunoglobulin lambda variable (I)-68 (pseudogene) |
IGHVII-67-1 Geneimmunoglobulin heavy variable (II)-67-1 (pseudogene) |
IGKV@ Geneimmunoglobulin kappa variable cluster Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains (see MIM 147100) and 2 identical light chains, either kappa or lambda (see MIM 147220), joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. The kappa and lambda light chains have no apparent functional differences. Each Ig kappa light chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by a C region gene (IGKC; MIM 147200), that provides signaling functions. The kappa light chain V region is encoded by 2 types of genes: V genes and joining (J) genes (see MIM 146970). Random selection of just 1 gene of each type to assemble a V region accounts for the great diversity of V regions among Ig molecules. The kappa light chain locus on chromosome 2 contains approximately 40 functional V genes, followed by approximately 5 functional J genes. Due to polymorphism, the numbers of functional V and J genes differ among individuals (Janeway et al., 2005).[supplied by OMIM, Apr 2008] |
TRBV12-4 GeneT cell receptor beta variable 12-4 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV12-5 GeneT cell receptor beta variable 12-5 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV12-1 GeneT cell receptor beta variable 12-1 (pseudogene) |
TRBV12-2 GeneT cell receptor beta variable 12-2 (pseudogene) Predicted to be involved in immune system process. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV12-3 GeneT cell receptor beta variable 12-3 Predicted to enable MHC protein binding activity and peptide antigen binding activity. Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV3-4 Geneimmunoglobulin lambda variable 3-4 (pseudogene) |
IGLV3-7 Geneimmunoglobulin lambda variable 3-7 (pseudogene) |
IGLV3-6 Geneimmunoglobulin lambda variable 3-6 (pseudogene) |
IGLV3-1 Geneimmunoglobulin lambda variable 3-1 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV3-2 Geneimmunoglobulin lambda variable 3-2 (pseudogene) |
IGLV3-9 Geneimmunoglobulin lambda variable 3-9 (gene/pseudogene) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHVII-74-1 Geneimmunoglobulin heavy variable (II)-74-1 (pseudogene) |
IGKV3D-34 Geneimmunoglobulin kappa variable 3D-34 (pseudogene) |
IGKV3D-31 Geneimmunoglobulin kappa variable 3D-31 (pseudogene) |
VCX3B Genevariable charge, X-linked 3B This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22, and the Y-linked members are two identical copies of the gene within a palindromic region on chromosome Yq11. The family members share a high degree of sequence identity, with the exception that a 30-nt unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This family member, as represented by the reference genome allele, contains 14 copies of the 30-nt repeat unit. VCX/Y genes encode small and highly charged proteins containing putative bipartite nuclear localization signals. Although the exact function of this family member has yet to be determined, a role in mRNA stability regulation can be inferred from the ability of the highly similar family member, VCX-A, to inhibit mRNA decapping. A possible role in the regulation of ribosome assembly during spermatogenesis has also been suggested. [provided by RefSeq, Aug 2010] |
VCX3A Genevariable charge, X-linked 3A This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 8 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008] |
IGKV3OR22-2 Geneimmunoglobulin kappa variable 3/OR22-2 (pseudogene) |
IGLV1-62 Geneimmunoglobulin lambda variable 1-62 (pseudogene) |
TRBV9 GeneT cell receptor beta variable 9 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV2 GeneT cell receptor beta variable 2 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV1 GeneT cell receptor beta variable 1 (pseudogene) |
IGHV7-56 Geneimmunoglobulin heavy variable 7-56 (pseudogene) |
TRBVC GeneT cell receptor beta variable C |
TRBVB GeneT cell receptor beta variable B (pseudogene) |
TRBVA GeneT cell receptor beta variable A (pseudogene) |
IGKV5-2 Geneimmunoglobulin kappa variable 5-2 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV7-3 Geneimmunoglobulin kappa variable 7-3 (pseudogene) |
TRAV34 GeneT cell receptor alpha variable 34 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV35 GeneT cell receptor alpha variable 35 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV37 GeneT cell receptor alpha variable 37 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV30 GeneT cell receptor alpha variable 30 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV32 GeneT cell receptor alpha variable 32 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV33 GeneT cell receptor alpha variable 33 (pseudogene) T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV39 GeneT cell receptor alpha variable 39 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
IGKV2D-40 Geneimmunoglobulin kappa variable 2D-40 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025] |
IGLVIV-66-1 Geneimmunoglobulin lambda variable (IV)-66-1 (pseudogene) |
TRBV29OR9-2 GeneT cell receptor beta variable 29/OR9-2 (non-functional) |
IGHV4-28 Geneimmunoglobulin heavy variable 4-28 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV1-17 Geneimmunoglobulin heavy variable 1-17 (pseudogene) |
IGHV1-18 Geneimmunoglobulin heavy variable 1-18 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLVV-58 Geneimmunoglobulin lambda variable (V)-58 (pseudogene) |
TRBV24OR9-2 GeneT cell receptor beta variable 24/OR9-2 (pseudogene) |
IGKV1OR1-1 Geneimmunoglobulin kappa variable 1/OR1-1 (pseudogene) |
TRGV11 GeneT cell receptor gamma variable 11 (non-functional) Predicted to be involved in adaptive immune response. Predicted to be located in external side of plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV4-1 Geneimmunoglobulin kappa variable 4-1 Predicted to enable antigen binding activity. Predicted to be involved in immune response. Located in blood microparticle. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV1-69D Geneimmunoglobulin heavy variable 1-69D Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGLV4-3 Geneimmunoglobulin lambda variable 4-3 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRAV12-1 GeneT cell receptor alpha variable 12-1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV12-3 GeneT cell receptor alpha variable 12-3 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV12-2 GeneT cell receptor alpha variable 12-2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
IGHV2-10 Geneimmunoglobulin heavy variable 2-10 (pseudogene) |
TRAV13-1 GeneT cell receptor alpha variable 13-1 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
TRAV13-2 GeneT cell receptor alpha variable 13-2 T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016] |
IGHV3-60 Geneimmunoglobulin heavy variable 3-60 (pseudogene) |
IGHV3-62 Geneimmunoglobulin heavy variable 3-62 (pseudogene) |
IGHV3-63 Geneimmunoglobulin heavy variable 3-63 (pseudogene) |
IGHV3-64 Geneimmunoglobulin heavy variable 3-64 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGHV3-65 Geneimmunoglobulin heavy variable 3-65 (pseudogene) |
IGHV3-66 Geneimmunoglobulin heavy variable 3-66 Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
TRBV29-1 GeneT cell receptor beta variable 29-1 Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1OR2-118 Geneimmunoglobulin kappa variable 1/OR2-118 (pseudogene) |
IGHVII-51-2 Geneimmunoglobulin heavy variable (II)-51-2 (pseudogene) |
IGKV3-20 Geneimmunoglobulin kappa variable 3-20 Predicted to enable antigen binding activity. Involved in glomerular filtration. Located in extracellular space. Part of monomeric IgA immunoglobulin complex; pentameric IgM immunoglobulin complex; and secretory IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV3-25 Geneimmunoglobulin kappa variable 3-25 (pseudogene) |
IGKV1D-42 Geneimmunoglobulin kappa variable 1D-42 (non-functional) Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
IGKV1D-43 Geneimmunoglobulin kappa variable 1D-43 Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025] |
variable myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease variable myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Common variable immunodeficiency 8, with autoimmunity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 8, with autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, partial, with variable foci Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, partial, with variable foci phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, X-linked, with variable learning disabilities and behavior disorders Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, X-linked, with variable learning disabilities and behavior disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Common variable immunodeficiency 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Common variable immunodeficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Common variable immunodeficiency 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Common variable immunodeficiency 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Common variable immunodeficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Common Variable Immunodeficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Common Variable Immunodeficiency from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Partial, with Variable Foci Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Partial, with Variable Foci from the curated CTD Gene-Disease Associations dataset. |
common variable immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease common variable immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
variable age at onset electroclinical syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease variable age at onset electroclinical syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
common variable immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease common variable immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
variable age at onset electroclinical syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease variable age at onset electroclinical syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
common variable immunodeficiency; igg deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; igg deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; hemochromatosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; hemochromatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; lung diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; lung diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchiectasis; common variable immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchiectasis; common variable immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; crohn disease; crohn's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; crohn disease; crohn's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; lymphoproliferative disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; lymphoproliferative disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
iga deficiency and common variable immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease iga deficiency and common variable immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; cytomegalovirus infections; graft vs host disease; hematologic diseases; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; cytomegalovirus infections; graft vs host disease; hematologic diseases; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
variable age at onset disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease variable age at onset disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
celiac disease; common variable immunodeficiency; iga deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease celiac disease; common variable immunodeficiency; iga deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
common variable immunodeficiency; hemochromatosis; igg deficiency; infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease common variable immunodeficiency; hemochromatosis; igg deficiency; infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
variable Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term variable in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
common variable immunodeficiency Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease common variable immunodeficiency in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
variable expressivity Gene SetFrom HPO Gene-Disease Associations genes associated with the variable expressivity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Common Variable Immunodeficiency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Common Variable Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
variable body spotting Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the variable body spotting phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
variable depigmentation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the variable depigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
epilepsy, familial focal, with variable foci Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial focal, with variable foci phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, x-linked, with variable learning disabilities and behavior disorders Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, x-linked, with variable learning disabilities and behavior disorders phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, common variable, 8, with autoimmunity Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, common variable, 8, with autoimmunity phenotype from the curated OMIM Gene-Disease Associations dataset. |
?immunodeficiency, common variable, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?immunodeficiency, common variable, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, common variable, 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, common variable, 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, common variable, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, common variable, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, common variable, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, common variable, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, common variable, 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, common variable, 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, common variable, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, common variable, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, common variable, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, common variable, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, common variable, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, common variable, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency, common variable, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency, common variable, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
conotruncal heart malformations, variable Gene SetFrom OMIM Gene-Disease Associations genes associated with the conotruncal heart malformations, variable phenotype from the curated OMIM Gene-Disease Associations dataset. |
Common Variable Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Common Variable Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Variable Expressivity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Variable Expressivity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
variable body spotting Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the variable body spotting phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
variable depigmentation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the variable depigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Familial focal epilepsy with variable foci Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Familial focal epilepsy with variable foci from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Common variable immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Common variable immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Variable age at onset electroclinical syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Variable age at onset electroclinical syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Variable age at onset electroclinical syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Variable age at onset electroclinical syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Common variable immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Common variable immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Common variable immunodeficiency 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Common variable immunodeficiency 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Common variable immunodeficiency 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Common variable immunodeficiency 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial focal epilepsy with variable foci Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial focal epilepsy with variable foci in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease stress-induced childhood-onset neurodegeneration with variable ataxia and seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Common variable immunodeficiency 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Common variable immunodeficiency 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Common variable immunodeficiency 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Common variable immunodeficiency 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Vertebral anomalies and variable endocrine and T-cell dysfunction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial focal epilepsy with variable foci 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial focal epilepsy with variable foci 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Common variable immunodeficiency 12 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Common variable immunodeficiency 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial focal epilepsy with variable foci 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial focal epilepsy with variable foci 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked epilepsy with variable learning disabilities and behavior disorders Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked epilepsy with variable learning disabilities and behavior disorders in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Common variable immunodeficiency 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Common variable immunodeficiency 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Common variable immunodeficiency 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Common variable immunodeficiency 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Common variable immunodeficiency 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Common variable immunodeficiency 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Common variable immunodeficiency 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Common variable immunodeficiency 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Common variable immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Common variable immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Common Variable Immune Deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Common Variable Immune Deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Vertebral anomalies and variable endocrine and T-cell dysfunction Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Vertebral anomalies and variable endocrine and T-cell dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PMC7479515-mmc4.xlsx-ST-RELA-variable-Unnamed_6_RELA Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC7479515-mmc4.xlsx-ST-RELA-variable-Unnamed_6_RELA transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC7479515-mmc8.xlsx-ST-RELA-variable-Unnamed_1_RELA Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC7479515-mmc8.xlsx-ST-RELA-variable-Unnamed_1_RELA transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC7479515-mmc8.xlsx-ST-RELA-variable-Unnamed_6_RELA Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC7479515-mmc8.xlsx-ST-RELA-variable-Unnamed_6_RELA transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC7479515-mmc8.xlsx-ST-RELA-variable-Unnamed_11_RELA Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC7479515-mmc8.xlsx-ST-RELA-variable-Unnamed_11_RELA transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC7479515-mmc8.xlsx-ST-RELA-variable-Unnamed_15_RELA Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC7479515-mmc8.xlsx-ST-RELA-variable-Unnamed_15_RELA transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC7479515-mmc8.xlsx-ST-RELA-variable-Unnamed_17_RELA Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC7479515-mmc8.xlsx-ST-RELA-variable-Unnamed_17_RELA transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC7479515-mmc8.xlsx-ST-RELA-variable-Unnamed_20_RELA Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC7479515-mmc8.xlsx-ST-RELA-variable-Unnamed_20_RELA transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bethlem myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bethlem myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myofibrillar myopathy, ZASP-related Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myofibrillar myopathy, ZASP-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, centronuclear Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, centronuclear phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epiphyseal dysplasia, multiple, 3, with myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epiphyseal dysplasia, multiple, 3, with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 3, autosomal dominant or recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, reducing body, X-linked, early-onset, severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, centronuclear, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, centronuclear, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, myosin storage Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, myosin storage phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, actin, congenital, with cores Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with cores phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Minicore myopathy with external ophthalmoplegia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Minicore myopathy with external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Visceral myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Visceral myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Native American myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Native American myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nonaka myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nonaka myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, tubular aggregate, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, tubular aggregate, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myofibrillar myopathy, filamin C-related Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myofibrillar myopathy, filamin C-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy with lactic acidosis, hereditary Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy with lactic acidosis, hereditary phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, actin, congenital, with excess of thin myofilaments Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distal myopathy Markesbery-Griggs type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distal myopathy Markesbery-Griggs type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, congenital, with excess of muscle spindles Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, with excess of muscle spindles phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, distal, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, distal, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 2, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary myopathy with early respiratory failure Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary myopathy with early respiratory failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked myopathy with postural muscle atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked myopathy with postural muscle atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neutral lipid storage disease with myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neutral lipid storage disease with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, congenital, compton-north Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, compton-north phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked dominant scapuloperoneal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked dominant scapuloperoneal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myofibrillar myopathy 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myofibrillar myopathy 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brody myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brody myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nemaline myopathy 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, centronuclear, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, centronuclear, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive centronuclear myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, reducing body, X-linked, childhood-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, reducing body, X-linked, childhood-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, distal, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, distal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, distal, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, distal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Miyoshi myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Miyoshi myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy with tubular aggregates Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy with tubular aggregates phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myopathy with fiber type disproportion Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myopathy with fiber type disproportion phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MYOPATHY, CENTRONUCLEAR, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, 2 from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, CENTRONUCLEAR, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, 1 from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Central Core Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Central Core from the curated CTD Gene-Disease Associations dataset. |
Bethlem myopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bethlem myopathy from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Reducing Body, X-Linked, Childhood-Onset Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Childhood-Onset from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Distal, with Anterior Tibial Onset Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Distal, with Anterior Tibial Onset from the curated CTD Gene-Disease Associations dataset. |
Miyoshi myopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miyoshi myopathy from the curated CTD Gene-Disease Associations dataset. |
Welander distal myopathy, Swedish type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Welander distal myopathy, Swedish type from the curated CTD Gene-Disease Associations dataset. |
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, MYOFIBRILLAR, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 1 from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, MYOFIBRILLAR, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 4 from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, MYOFIBRILLAR, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 6 from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 6 from the curated CTD Gene-Disease Associations dataset. |
Myopathy with lactic acidosis and sideroblastic anemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 1 from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION from the curated CTD Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 5 from the curated CTD Gene-Disease Associations dataset. |
Visceral Myopathy, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Visceral Myopathy, Familial from the curated CTD Gene-Disease Associations dataset. |
Scapuloperoneal Myopathy, X-Linked Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Scapuloperoneal Myopathy, X-Linked Dominant from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Hyaline Body, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Hyaline Body, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, Compton-North Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, Compton-North from the curated CTD Gene-Disease Associations dataset. |
Myopathy, X-Linked, With Postural Muscle Atrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, X-Linked, With Postural Muscle Atrophy from the curated CTD Gene-Disease Associations dataset. |
SCAPULOPERONEAL MYOPATHY, MYH7-RELATED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SCAPULOPERONEAL MYOPATHY, MYH7-RELATED from the curated CTD Gene-Disease Associations dataset. |
Neutral Lipid Storage Disease with Myopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutral Lipid Storage Disease with Myopathy from the curated CTD Gene-Disease Associations dataset. |
Distal myopathy, Nonaka type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Distal myopathy, Nonaka type from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Hereditary Myopathy with Early Respiratory Failure Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Myopathy with Early Respiratory Failure from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, SPHEROID BODY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, SPHEROID BODY from the curated CTD Gene-Disease Associations dataset. |
Minicore Myopathy with External Ophthalmoplegia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Minicore Myopathy with External Ophthalmoplegia from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset. |
Myopathy, X-Linked, with Excessive Autophagy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, X-Linked, with Excessive Autophagy from the curated CTD Gene-Disease Associations dataset. |
Myopathy with Lactic Acidosis, Hereditary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy with Lactic Acidosis, Hereditary from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, CENTRONUCLEAR, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Myosin Storage Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Myosin Storage from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 3 from the curated CTD Gene-Disease Associations dataset. |
Nemaline myopathy 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline myopathy 4 from the curated CTD Gene-Disease Associations dataset. |
Nemaline Myopathy 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline Myopathy 2 from the curated CTD Gene-Disease Associations dataset. |
Inclusion Body Myopathy 3, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion Body Myopathy 3, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Early-Onset, with Fatal Cardiomyopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Early-Onset, with Fatal Cardiomyopathy from the curated CTD Gene-Disease Associations dataset. |
Inclusion body myopathy autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion body myopathy autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Brody myopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Brody myopathy from the curated CTD Gene-Disease Associations dataset. |
Nemaline Myopathy 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nemaline Myopathy 7 from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset. |
mitochondrial myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease mitochondrial myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
brody myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease brody myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
bethlem myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease bethlem myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
nemaline myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease nemaline myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
central core myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease central core myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital structural myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital structural myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
centronuclear myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease centronuclear myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
myopathy of extraocular muscle Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease myopathy of extraocular muscle from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
myopathy Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease myopathy in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
congenital structural myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital structural myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
central core myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease central core myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
brody myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease brody myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
myopathy of extraocular muscle Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease myopathy of extraocular muscle in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
bethlem myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease bethlem myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
x-linked myopathy with excessive autophagy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease x-linked myopathy with excessive autophagy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
centronuclear myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
nemaline myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease nemaline myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
adult onset multi/minicore myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult onset multi/minicore myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mild myotubular myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mild myotubular myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inherited myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inherited myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mitochondrial myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mitochondrial myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nemaline myopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nemaline myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myopathy, idiopathic inflammatory Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myopathy, idiopathic inflammatory in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myopathy Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term myopathy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
myopathy Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease myopathy in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
scapuloperoneal myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the scapuloperoneal myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
myofibrillar myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the myofibrillar myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mitochondrial myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the mitochondrial myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
skeletal myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the skeletal myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
minicore (multicore) myopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the minicore (multicore) myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
myopathy Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the myopathy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
nemaline myopathy 6, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 6, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, spheroid body Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, spheroid body phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy with extrapyramidal signs Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy with extrapyramidal signs phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, early-onset, with fatal cardiomyopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, early-onset, with fatal cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, distal, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, distal, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
centronuclear myopathy 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the centronuclear myopathy 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myosin storage Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myosin storage phenotype from the curated OMIM Gene-Disease Associations dataset. |
native american myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the native american myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
inclusion body myopathy, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the inclusion body myopathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, x-linked, with postural muscle atrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, x-linked, with postural muscle atrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 1, autosomal dominant or recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, tubular aggregate Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, tubular aggregate phenotype from the curated OMIM Gene-Disease Associations dataset. |
epiphyseal dysplasia, multiple, with myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the epiphyseal dysplasia, multiple, with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 8, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 8, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 4, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 4, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
brody myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the brody myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutral lipid storage disease with myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutral lipid storage disease with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, actin, congenital, with cores Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, actin, congenital, with cores phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
?myopathy, congenital, compton-north Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?myopathy, congenital, compton-north phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy with lactic acidosis, hereditary Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy with lactic acidosis, hereditary phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 5, amish type Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 5, amish type phenotype from the curated OMIM Gene-Disease Associations dataset. |
?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, reducing body, x-linked, childhood-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, reducing body, x-linked, childhood-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital myopathy with excess of muscle spindles Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital myopathy with excess of muscle spindles phenotype from the curated OMIM Gene-Disease Associations dataset. |
welander distal myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the welander distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Gene SetFrom OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset. |
bethlem myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the bethlem myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, centronuclear, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, distal 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, distal 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, proximal, with early respiratory muscle involvement Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, proximal, with early respiratory muscle involvement phenotype from the curated OMIM Gene-Disease Associations dataset. |
laing distal myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the laing distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?myopathy, tubular aggregate, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?myopathy, tubular aggregate, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
scapuloperoneal myopathy, x-linked dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the scapuloperoneal myopathy, x-linked dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 7, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial myopathy and sideroblastic anemia 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial myopathy and sideroblastic anemia 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myotubular myopathy, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the myotubular myopathy, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 3, autosomal dominant or recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
minicore myopathy with external ophthalmoplegia Gene SetFrom OMIM Gene-Disease Associations genes associated with the minicore myopathy with external ophthalmoplegia phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, distal, with anterior tibial onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, distal, with anterior tibial onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
cap myopathy 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cap myopathy 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cap myopathy 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cap myopathy 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{centronuclear myopathy, autosomal, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {centronuclear myopathy, autosomal, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion phenotype from the curated OMIM Gene-Disease Associations dataset. |
inclusion body myopathy-3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the inclusion body myopathy-3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, centronuclear, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, centronuclear, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, centronuclear Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear phenotype from the curated OMIM Gene-Disease Associations dataset. |
?peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, reducing body, x-linked, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 2, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy due to cpt ii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
nonaka myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the nonaka myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, distal, tateyama type Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, distal, tateyama type phenotype from the curated OMIM Gene-Disease Associations dataset. |
visceral myopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the visceral myopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, actin, congenital, with excess of thin myofilaments Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated OMIM Gene-Disease Associations dataset. |
nemaline myopathy 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nemaline myopathy 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy due to myoadenylate deaminase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy Gene SetFrom PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease myopathy from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset. |
Inclusion Body Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inclusion Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neutral Lipid Storage Disease With Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neutral Lipid Storage Disease With Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Central Core Myopathy (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Central Core Myopathy (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Centronuclear Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
X-Linked Centronuclear Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease X-Linked Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Actin-Accumulation Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Actin-Accumulation Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Myotubular Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Myotubular Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Centronuclear Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cap Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Structural Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Structural Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intranuclear Rod Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intranuclear Rod Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myofibrillar Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myofibrillar Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nemaline Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nemaline Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonaka Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonaka Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Scapuloperoneal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scapuloperoneal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Secondary Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Secondary Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tubular Aggregate Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tubular Aggregate Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vacuolar Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vacuolar Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Zebra Body Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Zebra Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Visceral Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Visceral Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Visceral Myopathy, Familial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Visceral Myopathy, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Miyoshi Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miyoshi Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bethlem Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bethlem Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Minicore Myopathy With External Ophthalmoplegia (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Minicore Myopathy With External Ophthalmoplegia (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multi-Core Congenital Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multi-Core Congenital Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Scapuloperoneal Myopathy, X-Linked Dominant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scapuloperoneal Myopathy, X-Linked Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sarcoid Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sarcoid Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alcohol Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alcohol Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Brody Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brody Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myotubular (Centronuclear) Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myotubular (Centronuclear) Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Axial Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Axial Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Critical Illness Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Critical Illness Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Welander Distal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Welander Distal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Necrotizing Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Necrotizing Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Proximal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Proximal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Proximal Myopathy With Focal Depletion Of Mitochondria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Proximal Myopathy With Focal Depletion Of Mitochondria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Epiphyseal Dysplasia, Multiple, With Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Epiphyseal Dysplasia, Multiple, With Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Congenital Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Congenital Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reducing-Body Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing-Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Myopathy With Early Respiratory Failure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Myopathy With Early Respiratory Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Native American Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Native American Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Oculopharyngodistal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Oculopharyngodistal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Limb-Girdle Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Limb-Girdle Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyglucosan Body Myopathy 2 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Myopathy 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Klhl9-Related Early-Onset Distal Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Klhl9-Related Early-Onset Distal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myotubular Myopathy With Abnormal Genital Development Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myotubular Myopathy With Abnormal Genital Development in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Distal Myopathy 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Distal Myopathy 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inflammatory Myopathy With Abundant Macrophages Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inflammatory Myopathy With Abundant Macrophages in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inclusion Body Myopathy, Autosomal Dominant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inclusion Body Myopathy, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spheroid Body Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spheroid Body Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Myopathy With Lactic Acidosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Myopathy With Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyglucosan Body Myopathy Type 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Myopathy Type 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Benign Samaritan Congenital Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Benign Samaritan Congenital Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Myopathy With Myasthenic-Like Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Myopathy With Myasthenic-Like Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Desmin Related Myopathy With Mallory Body-Like Inclusions Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Desmin Related Myopathy With Mallory Body-Like Inclusions in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cap Myopathy 2 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cap Myopathy, Tpm2-Related Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy, Tpm2-Related in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cap Myopathy, Tpm3-Related (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cap Myopathy, Tpm3-Related (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
myopathy Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the myopathy phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Nemaline myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Nemaline myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Mitochondrial myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Mitochondrial myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Myofibrillar myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myofibrillar myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
GNE myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease GNE myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital structural myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital structural myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Centronuclear myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Centronuclear myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Distal myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Distal myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy 4A Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 4A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Myofibrillar myopathy 9 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myofibrillar myopathy 9 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy 5 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 5 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Native American myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Native American myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Inclusion body myopathy with Paget disease of bone and frontotemporal dementia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hyaline body myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hyaline body myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Distal myopathy 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Distal myopathy 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Brody myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Brody myopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy 1B Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 1B from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Nemaline myopathy 3 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Nemaline myopathy 3 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital myopathy 1A Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital myopathy 1A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Centronuclear myopathy X-linked Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Centronuclear myopathy X-linked from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Myopathy Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Myopathy in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
COX deficiency, infantile mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease COX deficiency, infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with Paget disease of bone and frontotemporal dementia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital structural myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital structural myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
GNE myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease GNE myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy X-linked Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy X-linked in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Oculopharyngodistal myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculopharyngodistal myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Fatal infantile hypertonic myofibrillar myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Fatal infantile hypertonic myofibrillar myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy with rimmed vacuoles Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy with rimmed vacuoles in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
COX deficiency, benign infantile mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease COX deficiency, benign infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked myopathy with excessive autophagy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked myopathy with excessive autophagy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 1A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 1A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Bethlem myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Bethlem myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant centronuclear myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy with anterior tibial onset Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy with anterior tibial onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Compton-North congenital myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Compton-North congenital myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Scapuloperoneal myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Scapuloperoneal myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hyaline body myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hyaline body myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 1B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 1B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myopathy, lactic acidosis, and sideroblastic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 6 with fiber-type disproportion Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 6 with fiber-type disproportion in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Brody myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Brody myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cylindrical spirals myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cylindrical spirals myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 4A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 4A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myopathy with extrapyramidal signs Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myopathy with extrapyramidal signs in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive centronuclear myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive centronuclear myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Isolated mitochondrial myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Isolated mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 5A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 5A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Native American myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Native American myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
myopathy, lactic acidosis, and sideroblastic anemia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease myopathy, lactic acidosis, and sideroblastic anemia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Centronuclear myopathy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Centronuclear myopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Oculopharyngodistal myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculopharyngodistal myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myofibrillar myopathy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myofibrillar myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Distal myopathy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Distal myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myopathy of extraocular muscle Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myopathy of extraocular muscle in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 22A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 22A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Tubular aggregate myopathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Tubular aggregate myopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant hyaline body myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant hyaline body myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nemaline myopathy 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nemaline myopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital myopathy 22B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital myopathy 22B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive hyaline body myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive hyaline body myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy caused by variation in F Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy caused by variation in F phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SELENON-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SELENON-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myofibrillar myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Centronuclear myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Distal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SCN4A-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SCN4A-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
GNE myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the GNE myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant centronuclear myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Sarcotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sarcotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Inclusion body myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inclusion body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TPM3-related core myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TPM3-related core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Nemaline myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Nemaline myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Central core myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Central core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital multicore myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital multicore myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
RYR1-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the RYR1-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MYH7-related skeletal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MYH7-related skeletal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myosin storage myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myosin storage myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Visceral myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Visceral myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Desmin-related myofibrillar myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Desmin-related myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Bethlem myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Bethlem myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Collagen 6-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Collagen 6-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Batten-Turner congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Batten-Turner congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Brody myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Brody myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Inborn mitochondrial myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inborn mitochondrial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Actin accumulation myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Actin accumulation myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital myopathy 2b Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy 2b phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital myopathy 2c Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy 2c phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive scapulohumeroperoneal distal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive scapulohumeroperoneal distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital myopathy 10b Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital myopathy 10b phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MEGF10-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MEGF10-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MYPN-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MYPN-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neutral lipid storage myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neutral lipid storage myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Welander distal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Welander distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Fatal infantile hypertonic myofibrillar myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Fatal infantile hypertonic myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Scapuloperoneal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Scapuloperoneal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability and myopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability and myopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TTN-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TTN-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy caused by variation in POMG Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy caused by variation in POMG phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Bailey-Bloch congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Bailey-Bloch congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metabolic myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metabolic myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Multiminicore myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Multiminicore myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Miyoshi myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Miyoshi myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy caused by variation in PO Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy caused by variation in PO phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Proximal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Proximal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Compton-North congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Compton-North congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Metabolic myopathy due to lactate transporter defect Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary inclusion-body myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary inclusion-body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Polyglucosan body myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Polyglucosan body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant mitochondrial myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant mitochondrial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
HNRNPDL-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the HNRNPDL-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Axial myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Axial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SGCG-related congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SGCG-related congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial myopathy-lactic acidosis-deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy-lactic acidosis-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CAP-congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the CAP-congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ACTA1 gene related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ACTA1 gene related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myopathy due to calsequestrin and SERCA1 protein overload Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy due to calsequestrin and SERCA1 protein overload phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital nonprogressive myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital nonprogressive myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hyaline body myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyaline body myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TPM2-related cap myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TPM2-related cap myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
MYH2-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the MYH2-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Inclusion body myopathy and brain white matter abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Inclusion body myopathy and brain white matter abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital structural myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital structural myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Childhood-onset autosomal recessive myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood-onset autosomal recessive myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Skeletal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Skeletal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TPM2-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TPM2-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive centronuclear myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial idiopathic inflammatory myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial idiopathic inflammatory myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
COL6A2-related core myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the COL6A2-related core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Finnish upper limb-onset distal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Finnish upper limb-onset distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SPEG-related congenital myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SPEG-related congenital myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
IDUA-related core myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the IDUA-related core myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Oculopharyngodistal myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Oculopharyngodistal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Simvastatin-induced myopathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Simvastatin-induced myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Atorvastatin-induced myopathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Atorvastatin-induced myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Statin-induced myopathy (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Statin-induced myopathy (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Statin-induced myopathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Statin-induced myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Idiopathic inflammatory myopathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Idiopathic inflammatory myopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |