Name

TRAV23DV6 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

immunoglobulin lambda variable (I)-38 (pseudogene)

IGKV1OR10-1 Gene

immunoglobulin kappa variable 1/OR10-1 (pseudogene)

IGHVII-60-1 Gene

immunoglobulin heavy variable (II)-60-1 (pseudogene)

IGHV1-8 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 5-78 (pseudogene)

TRBV20-1 Gene

T 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 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 2-36 (pseudogene)

IGKV2-30 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 2-38 (pseudogene)

IGHVIII-26-1 Gene

immunoglobulin heavy variable (III)-26-1 (pseudogene)

IGHV1-69-2 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 2/OR2-8 (pseudogene)

IGKV2D-14 Gene

immunoglobulin kappa variable 2D-14 (pseudogene)

IGKV2D-10 Gene

immunoglobulin kappa variable 2D-10 (pseudogene)

IGKV2D-18 Gene

immunoglobulin kappa variable 2D-18 (pseudogene)

IGKV2D-19 Gene

immunoglobulin kappa variable 2D-19 (pseudogene)

TRBV6-8 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T cell receptor beta variable 21-1 (pseudogene)

IGHV3OR16-7 Gene

immunoglobulin heavy variable 3/OR16-7 (pseudogene)

IGHV3-69-1 Gene

immunoglobulin heavy variable 3-69-1 (pseudogene)

TRBV23OR9-2 Gene

T cell receptor beta variable 23/OR9-2 (non-functional)

IGLV5-45 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

T 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 Gene

immunoglobulin heavy variable (II)-22-1 (pseudogene)

IGKV3-11 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3-37 (pseudogene)

IGHV3-36 Gene

immunoglobulin heavy variable 3-36 (pseudogene)

IGHV3-35 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3-32 (pseudogene)

IGHV3-30 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T cell receptor beta variable 7-5 (pseudogene)

TRBV7-4 Gene

T 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 Gene

T 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 Gene

T 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

T 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 Gene

immunoglobulin lambda variable 2-28 (pseudogene)

IGLV2-23 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 1-12 (pseudogene)

IGHV1-14 Gene

immunoglobulin heavy variable 1-14 (pseudogene)

IGHV3OR16-13 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 7-34-1 (pseudogene)

IGHV3-30-2 Gene

immunoglobulin heavy variable 3-30-2 (pseudogene)

IGHV3-30-3 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable (IV)-53 (pseudogene)

IGLVIV-59 Gene

immunoglobulin lambda variable (IV)-59 (pseudogene)

IGLVIVOR22-2 Gene

immunoglobulin lambda variable (IV)/OR22-2 (pseudogene)

IGLVIVOR22-1 Gene

immunoglobulin lambda variable (IV)/OR22-1 (pseudogene)

IGHV4-38-2 Gene

immunoglobulin 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 Gene

T cell receptor gamma variable 5P (pseudogene)

IGKV2D-29 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 2D-23 (pseudogene)

IGKV1D-8 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable 7-35 (pseudogene)

TRGV10 Gene

T 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 Gene

immunoglobulin heavy variable (II)-49-1 (pseudogene)

IGHV1OR15-2 Gene

immunoglobulin heavy variable 1/OR15-2 (pseudogene)

IGHV1OR15-3 Gene

immunoglobulin heavy variable 1/OR15-3 (pseudogene)

IGHV1OR15-1 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 1/OR15-6 (pseudogene)

IGHV1OR15-4 Gene

immunoglobulin heavy variable 1/OR15-4 (pseudogene)

IGHV1OR15-9 Gene

immunoglobulin 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 Gene

T cell receptor beta variable 21/OR9-2 (pseudogene)

IGHVII-30-1 Gene

immunoglobulin heavy variable (II)-30-1 (pseudogene)

IGHV2-70 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 1/OR2-9 (pseudogene)

IGKV1D-22 Gene

immunoglobulin kappa variable 1D-22 (pseudogene)

IGKV1D-27 Gene

immunoglobulin kappa variable 1D-27 (pseudogene)

IGHV3-48 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3-47 (pseudogene)

IGHV3-42 Gene

immunoglobulin heavy variable 3-42 (pseudogene)

IGHV3-43 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3-41 (pseudogene)

IGLVI-56 Gene

immunoglobulin lambda variable (I)-56 (pseudogene)

IGHVII-26-2 Gene

immunoglobulin heavy variable (II)-26-2 (pseudogene)

IGKV2OR2-10 Gene

immunoglobulin kappa variable 2/OR2-10 (pseudogene)

IGKV1ORY-1 Gene

immunoglobulin kappa variable 1/ORY-1 (pseudogene)

IGHV3-43D Gene

immunoglobulin heavy variable 3-43D

IGHVIII-44 Gene

immunoglobulin heavy variable (III)-44 (pseudogene)

IGHV3-11 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable (II)-31-1 (pseudogene)

IGLV1-51 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 7-40 (pseudogene)

TRBV11-3 Gene

T 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 Gene

T 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 Gene

immunglobulin heavy chain variable region

TRAV20 Gene

T 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 Gene

T 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable (II)-44-2 (pseudogene)

IGHVIII-2-1 Gene

immunoglobulin heavy variable (III)-2-1 (pseudogene)

IGHVIII-16-1 Gene

immunoglobulin heavy variable (III)-16-1 (pseudogene)

IGHV2-70D Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 1-67 (pseudogene)

IGHV1-68 Gene

immunoglobulin heavy variable 1-68 (pseudogene)

IGHV1-69 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 1/OR15-118 (pseudogene)

IGKV3D-7 Gene

immunoglobulin 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 Gene

T 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable 3-31 (pseudogene)

IGLV3-30 Gene

immunoglobulin lambda variable 3-30 (pseudogene)

TRBV17 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

immunoglobulin lambda variable 10-67 (pseudogene)

IGKV2-4 Gene

immunoglobulin kappa variable 2-4 (pseudogene)

IGKV3-34 Gene

immunoglobulin kappa variable 3-34 (pseudogene)

IGKV3-31 Gene

immunoglobulin kappa variable 3-31 (pseudogene)

IGKV3OR2-5 Gene

immunoglobulin kappa variable 3/OR2-5 (pseudogene)

TRBVAOR9-2 Gene

T cell receptor beta variable A/OR9-2 (pseudogene)

IGHV3-19 Gene

immunoglobulin heavy variable 3-19 (pseudogene)

IGHV3-15 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable (I)-20 (pseudogene)

IGHVII-43-1 Gene

immunoglobulin heavy variable (II)-43-1 (pseudogene)

IGHV4-55 Gene

immunoglobulin heavy variable 4-55 (pseudogene)

LOC391405 Gene

immunoglobulin kappa light chain variable region

IGKV1-27 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 1-22 (pseudogene)

IGHVIV-44-1 Gene

immunoglobulin heavy variable (IV)-44-1 (pseudogene)

IGHV4-34 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 2-23 (pseudogene)

IGKV2-26 Gene

immunoglobulin kappa variable 2-26 (pseudogene)

IGKV2-28 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable (III)-47-1 (pseudogene)

IGHVII-40-1 Gene

immunoglobulin heavy variable (II)-40-1 (pseudogene)

TRBV6-4 Gene

T 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 Gene

T 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 Gene

immunoglobulin lambda variable (VI)-25-1 (pseudogene)

IGHV6-1 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 1/OR-3 (pseudogene)

IGKV1OR-2 Gene

immunoglobulin kappa variable 1/OR-2 (pseudogene)

IGKV1OR-4 Gene

immunoglobulin kappa variable 1/OR-4 (pseudogene)

IGLVVII-41-1 Gene

immunoglobulin lambda variable (VII)-41-1 (pseudogene)

IGHVII-65-1 Gene

immunoglobulin heavy variable (II)-65-1 (pseudogene)

IGKV2OR22-3 Gene

immunoglobulin kappa variable 2/OR22-3 (pseudogene)

IGKV2OR22-4 Gene

immunoglobulin kappa variable 2/OR22-4 (pseudogene)

IGHVII-53-1 Gene

immunoglobulin heavy variable (II)-53-1 (pseudogene)

IGLV@ Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable (II)-62-1 (pseudogene)

IGHVII-20-1 Gene

immunoglobulin heavy variable (II)-20-1 (pseudogene)

IGHVII-28-1 Gene

immunoglobulin heavy variable (II)-28-1 (pseudogene)

IGLV5-37 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

T 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 Gene

T cell receptor beta variable 26 (pseudogene)

IGHV3OR16-12 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3/OR16-11 (pseudogene)

IGHV3OR16-10 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3/OR16-16 (pseudogene)

IGHV3OR16-15 Gene

immunoglobulin heavy variable 3/OR16-15 (pseudogene)

IGKV2-24 Gene

immunoglobulin 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 Gene

basic, immunoglobulin-like variable motif containing

Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

IGLV4-60 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3-25 (pseudogene)

IGHV3-20 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3-22 (pseudogene)

IGHV3-23 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable (I)-70 (pseudogene)

IGHV3-29 Gene

immunoglobulin heavy variable 3-29 (pseudogene)

IGHV7-27 Gene

immunoglobulin heavy variable 7-27 (pseudogene)

IGHV3OR15-7 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 3D-25 (pseudogene)

IGHVII-15-1 Gene

immunoglobulin heavy variable (II)-15-1 (pseudogene)

IGLVVI-22-1 Gene

immunoglobulin lambda variable (VI)-22-1 (pseudogene)

TRAV31 Gene

T 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 Gene

variable 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 Gene

variable 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 Gene

immunoglobulin heavy variable (III)-25-1 (pseudogene)

IGLV2-34 Gene

immunoglobulin lambda variable 2-34 (pseudogene)

IGLV2-33 Gene

immunoglobulin 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

immunoglobulin heavy variable (III)-67-4 (pseudogene)

IGHVIII-67-2 Gene

immunoglobulin heavy variable (III)-67-2 (pseudogene)

IGHVIII-67-3 Gene

immunoglobulin heavy variable (III)-67-3 (pseudogene)

IGKV1OR2-3 Gene

immunoglobulin kappa variable 1/OR2-3 (pseudogene)

IGKV1OR2-0 Gene

immunoglobulin kappa variable 1/OR2-0 (non-functional)

IGKV1OR2-1 Gene

immunoglobulin kappa variable 1/OR2-1 (pseudogene)

IGKV1OR2-6 Gene

immunoglobulin kappa variable 1/OR2-6 (pseudogene)

IGLV6-57 Gene

immunoglobulin 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T cell receptor beta variable 25/OR9-2 (pseudogene)

IGHV3OR16-9 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 1/OR15-5 (non-functional)

IGHV2-5 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 1/OR22-1 (pseudogene)

IGKV1OR22-5 Gene

immunoglobulin kappa variable 1/OR22-5 (pseudogene)

IGKV6D-21 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3-33-2 (pseudogene)

TRBV22OR9-2 Gene

T cell receptor beta variable 22/OR9-2 (pseudogene)

TRGV6 Gene

T cell receptor gamma variable 6 (pseudogene)

TRGV7 Gene

T cell receptor gamma variable 7 (pseudogene)

TRGV4 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T cell receptor gamma variable B (pseudogene)

TRGVA Gene

T cell receptor gamma variable A (pseudogene)

IGHVIII-22-2 Gene

immunoglobulin heavy variable (III)-22-2 (pseudogene)

IGKV1D-39 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 1D-32 (pseudogene)

IGKV1D-35 Gene

immunoglobulin kappa variable 1D-35 (pseudogene)

IGKV1D-37 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3-79 (pseudogene)

IGHV3-73 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3-71 (pseudogene)

IGHV3-76 Gene

immunoglobulin heavy variable 3-76 (pseudogene)

IGHV3-75 Gene

immunoglobulin heavy variable 3-75 (pseudogene)

IGHV3-74 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable (I)-42 (pseudogene)

IGLV8OR8-1 Gene

immunoglobulin lambda variable 8/OR8-1 (pseudogene)

IGKV1OR2-108 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3/OR16-14 (pseudogene)

IGHV3OR16-6 Gene

immunoglobulin heavy variable 3/OR16-6 (pseudogene)

TRAV26-1 Gene

T 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 Gene

T 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3-6 (pseudogene)

IGHV3-9 Gene

immunoglobulin 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 Gene

T cell receptor beta variable 22-1 (pseudogene)

IGHVIII-51-1 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

T 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 Gene

T 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 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable 3-13 (pseudogene)

IGLV3-12 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable 3-15 (pseudogene)

IGLV3-17 Gene

immunoglobulin lambda variable 3-17 (pseudogene)

IGLV3-16 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 1/OR2-11 (pseudogene)

IGKV3D-11 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable 1-41 (pseudogene)

IGLV1-44 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

T 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

immunoglobulin kappa variable 2/OR2-2 (pseudogene)

IGKV2OR2-1 Gene

immunoglobulin kappa variable 2/OR2-1 (pseudogene)

IGKV2OR2-7 Gene

immunoglobulin kappa variable 2/OR2-7 (pseudogene)

IGKV2OR2-4 Gene

immunoglobulin kappa variable 2/OR2-4 (pseudogene)

TRAV18 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

immunoglobulin heavy variable 1/OR16-1 (pseudogene)

IGHV1OR16-3 Gene

immunoglobulin heavy variable 1/OR16-3 (pseudogene)

IGHV1OR16-2 Gene

immunoglobulin heavy variable 1/OR16-2 (pseudogene)

IGHV1OR16-4 Gene

immunoglobulin heavy variable 1/OR16-4 (pseudogene)

TRBV5-7 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T cell receptor beta variable 5-2 (pseudogene)

TRBV5-1 Gene

T 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 Gene

T 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable (III)-76-1 (pseudogene)

IGHV2OR16-5 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 1/OR9-1 (pseudogene)

TRBV8-2 Gene

T cell receptor beta variable 8-2 (pseudogene)

TRBV8-1 Gene

T cell receptor beta variable 8-1 (pseudogene)

IGHV4-80 Gene

immunoglobulin heavy variable 4-80 (pseudogene)

IGHV7-81 Gene

immunoglobulin 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 Gene

T cell receptor beta variable 26/OR9-2 (pseudogene)

VCY1B Gene

variable 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 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable 3-29 (pseudogene)

IGLV3-21 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable 3-24 (pseudogene)

IGLV3-25 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable 3-26 (pseudogene)

IGLV3-27 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

variable 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 Gene

immunoglobulin heavy variable (II)-78-1 (pseudogene)

IGHV1OR21-1 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 1-35 (pseudogene)

IGKV1-37 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 1-32 (pseudogene)

IGKV1-33 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

T 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 Gene

Epilepsy, partial, with variable foci

IGHVIII-5-2 Gene

immunoglobulin heavy variable (III)-5-2 (pseudogene)

IGHVIII-5-1 Gene

immunoglobulin heavy variable (III)-5-1 (pseudogene)

IGHV5-51 Gene

immunoglobulin 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 Gene

T 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 Gene

T 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

defensin, alpha 1 and alpha 3, variable copy number locus

IGHV3-64D Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 4-30-1

IGKV2-19 Gene

immunoglobulin kappa variable 2-19 (pseudogene)

IGKV2-18 Gene

immunoglobulin kappa variable 2-18 (pseudogene)

IGKV2-14 Gene

immunoglobulin kappa variable 2-14 (pseudogene)

IGKV2-10 Gene

immunoglobulin kappa variable 2-10 (pseudogene)

IGHVIII-38-1 Gene

immunoglobulin heavy variable (III)-38-1 (pseudogene)

TRAV1-1 Gene

T 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 Gene

T 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 Gene

immunoglobulin heavy variable (III)-82 (pseudogene)

IGLV11-55 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable (IV)-65 (pseudogene)

IGLVIV-64 Gene

immunoglobulin lambda variable (IV)-64 (pseudogene)

IGLV1-40 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable (II)-33-1 (pseudogene)

IGKV2D-38 Gene

immunoglobulin kappa variable 2D-38 (pseudogene)

IGKV2D-36 Gene

immunoglobulin kappa variable 2D-36 (pseudogene)

IGKV2D-30 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 2/OR2-7D (pseudogene)

IGLV9-49 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable 2-5 (pseudogene)

IGKV3OR2-268 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable (III)-11-1 (pseudogene)

IGHVIII-13-1 Gene

immunoglobulin heavy variable (III)-13-1 (pseudogene)

IGHVII-46-1 Gene

immunoglobulin heavy variable (II)-46-1 (pseudogene)

TRBV27 Gene

T 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 Gene

T 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 Gene

immunoglobulin heavy variable (II)-1-1 (pseudogene)

IGKV1D-17 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

T cell receptor beta variable 3-2 (pseudogene)

IGLVV-66 Gene

immunoglobulin lambda variable (V)-66 (pseudogene)

IGHV3-50 Gene

immunoglobulin heavy variable 3-50 (pseudogene)

IGHV3-53 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3-52 (pseudogene)

IGHV3-54 Gene

immunoglobulin heavy variable 3-54 (pseudogene)

IGHV3-57 Gene

immunoglobulin heavy variable 3-57 (pseudogene)

IGLVI-63 Gene

immunoglobulin lambda variable (I)-63 (pseudogene)

IGLVI-68 Gene

immunoglobulin lambda variable (I)-68 (pseudogene)

IGHVII-67-1 Gene

immunoglobulin heavy variable (II)-67-1 (pseudogene)

IGKV@ Gene

immunoglobulin 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 Gene

T 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 Gene

T 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 Gene

T cell receptor beta variable 12-1 (pseudogene)

TRBV12-2 Gene

T 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 Gene

T 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 Gene

immunoglobulin lambda variable 3-4 (pseudogene)

IGLV3-7 Gene

immunoglobulin lambda variable 3-7 (pseudogene)

IGLV3-6 Gene

immunoglobulin lambda variable 3-6 (pseudogene)

IGLV3-1 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable 3-2 (pseudogene)

IGLV3-9 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable (II)-74-1 (pseudogene)

IGKV3D-34 Gene

immunoglobulin kappa variable 3D-34 (pseudogene)

IGKV3D-31 Gene

immunoglobulin kappa variable 3D-31 (pseudogene)

VCX3B Gene

variable 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 Gene

variable 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 Gene

immunoglobulin kappa variable 3/OR22-2 (pseudogene)

IGLV1-62 Gene

immunoglobulin lambda variable 1-62 (pseudogene)

TRBV9 Gene

T 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 Gene

T 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 Gene

T cell receptor beta variable 1 (pseudogene)

IGHV7-56 Gene

immunoglobulin heavy variable 7-56 (pseudogene)

TRBVC Gene

T cell receptor beta variable C

TRBVB Gene

T cell receptor beta variable B (pseudogene)

TRBVA Gene

T cell receptor beta variable A (pseudogene)

IGKV5-2 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 7-3 (pseudogene)

TRAV34 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable (IV)-66-1 (pseudogene)

TRBV29OR9-2 Gene

T cell receptor beta variable 29/OR9-2 (non-functional)

IGHV4-28 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 1-17 (pseudogene)

IGHV1-18 Gene

immunoglobulin 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 Gene

immunoglobulin lambda variable (V)-58 (pseudogene)

TRBV24OR9-2 Gene

T cell receptor beta variable 24/OR9-2 (pseudogene)

IGKV1OR1-1 Gene

immunoglobulin kappa variable 1/OR1-1 (pseudogene)

TRGV11 Gene

T 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Gene

T 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 Gene

T 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 Gene

T 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 Gene

immunoglobulin heavy variable 2-10 (pseudogene)

TRAV13-1 Gene

T 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 Gene

T 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 Gene

immunoglobulin heavy variable 3-60 (pseudogene)

IGHV3-62 Gene

immunoglobulin heavy variable 3-62 (pseudogene)

IGHV3-63 Gene

immunoglobulin heavy variable 3-63 (pseudogene)

IGHV3-64 Gene

immunoglobulin 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 Gene

immunoglobulin heavy variable 3-65 (pseudogene)

IGHV3-66 Gene

immunoglobulin 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 Gene

T 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 Gene

immunoglobulin kappa variable 1/OR2-118 (pseudogene)

IGHVII-51-2 Gene

immunoglobulin heavy variable (II)-51-2 (pseudogene)

IGKV3-20 Gene

immunoglobulin 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 Gene

immunoglobulin kappa variable 3-25 (pseudogene)

IGKV1D-42 Gene

immunoglobulin 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 Gene

immunoglobulin 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bethlem myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myofibrillar myopathy, ZASP-related Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, centronuclear, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, myosin storage Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Visceral myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Native American myopathy Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nonaka myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, tubular aggregate, 2 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brody myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, centronuclear, 3 Gene Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, distal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, distal, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, distal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Miyoshi myopathy Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Central Core from the curated CTD Gene-Disease Associations dataset.

Bethlem myopathy Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Brody myopathy from the curated CTD Gene-Disease Associations dataset.

Nemaline Myopathy 7 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the centronuclear myopathy 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myosin storage Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myosin storage phenotype from the curated OMIM Gene-Disease Associations dataset.

native american myopathy Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the bethlem myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, centronuclear, autosomal recessive Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 5 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the cap myopathy 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cap myopathy 1 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, centronuclear, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, centronuclear, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, centronuclear, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, centronuclear, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, centronuclear Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the nonaka myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal, tateyama type Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal, tateyama type phenotype from the curated OMIM Gene-Disease Associations dataset.

visceral myopathy Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease myopathy from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

Inclusion Body Myopathy Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the myopathy phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Myopathy Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Centronuclear myopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Distal myopathy Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Metabolic myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Multiminicore myopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Multiminicore myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Miyoshi myopathy Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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.