Name

IGLVI-38 Gene

immunoglobulin lambda variable (I)-38 (pseudogene)

IGKV1OR10-1 Gene

immunoglobulin kappa variable 1/OR10-1 (pseudogene)

LOC102724971 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

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]

IGHD6-25 Gene

immunoglobulin heavy diversity 6-25

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]

IGSF9B Gene

immunoglobulin superfamily, member 9B

Predicted to enable kinase binding activity. Predicted to be involved in synaptic membrane adhesion. Predicted to act upstream of or within homophilic cell adhesion via plasma membrane adhesion molecules and positive regulation of inhibitory postsynaptic potential. Predicted to be located in dendrite; inhibitory synapse; and neuronal cell body. Predicted to be active in GABA-ergic synapse; neuron projection; and postsynaptic specialization of symmetric synapse. [provided by Alliance of Genome Resources, Mar 2025]

IGHV5-78 Gene

immunoglobulin heavy variable 5-78 (pseudogene)

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]

LOC102725029 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

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]

IGKDEL Gene

immunoglobulin kappa deleting element or like

RBPJL Gene

recombination signal binding protein for immunoglobulin kappa J region-like

This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

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]

LOC101929818 Gene

killer cell immunoglobulin-like receptor 3DL1

IGKV2OR2-8 Gene

immunoglobulin kappa variable 2/OR2-8 (pseudogene)

IGBP1 Gene

immunoglobulin (CD79A) binding protein 1

The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways. [provided by RefSeq, Jul 2008]

IGSF10 Gene

immunoglobulin superfamily, member 10

Predicted to be involved in regulation of neuron migration. Predicted to act upstream of or within ossification. Located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

KIR3DX1 Gene

killer cell immunoglobulin-like receptor, three domains, X1

Predicted to be involved in immune response-regulating signaling pathway. Predicted to be located in extracellular region. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

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)

LOC100289350 Gene

immunoglobulin superfamily, member 3 pseudogene

IGHEP2 Gene

immunoglobulin heavy constant epsilon P2 (pseudogene)

IGHEP1 Gene

immunoglobulin heavy constant epsilon P1 (pseudogene)

IGLL1 Gene

immunoglobulin lambda-like polypeptide 1

The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

IGLL5 Gene

immunoglobulin lambda-like polypeptide 5

This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

IGHD3OR15-3B Gene

immunoglobulin heavy diversity 3/OR15-3B (non-functional)

IGHD3OR15-3A Gene

immunoglobulin heavy diversity 3/OR15-3A (non-functional)

IGHV3OR16-7 Gene

immunoglobulin heavy variable 3/OR16-7 (pseudogene)

IGHV3-69-1 Gene

immunoglobulin heavy variable 3-69-1 (pseudogene)

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]

LOC102725015 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

LOC102724844 Gene

immunoglobulin superfamily member 3-like

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]

IGSF8 Gene

immunoglobulin superfamily, member 8

This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

IGSF9 Gene

immunoglobulin superfamily, member 9

Predicted to enable cell-cell adhesion mediator activity. Predicted to be involved in axon guidance; dendrite self-avoidance; and homophilic cell adhesion via plasma membrane adhesion molecules. Predicted to act upstream of or within dendrite development and regulation of synapse organization. Predicted to be located in dendrite and inhibitory synapse. Predicted to be active in axon; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025]

IGSF5 Gene

immunoglobulin superfamily, member 5

Predicted to enable PDZ domain binding activity. Predicted to be involved in cell-cell adhesion. Predicted to be located in apical plasma membrane. Predicted to be active in bicellular tight junction and cell surface. [provided by Alliance of Genome Resources, Mar 2025]

IGSF6 Gene

immunoglobulin superfamily, member 6

Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in cell surface receptor signaling pathway and immune response. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

IGSF1 Gene

immunoglobulin superfamily, member 1

This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

IGSF3 Gene

immunoglobulin superfamily, member 3

The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]

LOC343052 Gene

immunoglobulin superfamily, DCC subclass, member 3 pseudogene

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]

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]

IGHD6-19 Gene

immunoglobulin heavy diversity 6-19

IGHD6-13 Gene

immunoglobulin heavy diversity 6-13

IGHJ6 Gene

immunoglobulin heavy joining 6

IGHJ5 Gene

immunoglobulin heavy joining 5

IGHJ4 Gene

immunoglobulin heavy joining 4

IGHJ3 Gene

immunoglobulin heavy joining 3

IGHJ2 Gene

immunoglobulin heavy joining 2

IGHJ1 Gene

immunoglobulin heavy joining 1

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]

ILDR2 Gene

immunoglobulin-like domain containing receptor 2

Involved in negative regulation of T cell activation. Predicted to be located in tight junction. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]

ILDR1 Gene

immunoglobulin-like domain containing receptor 1

This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

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]

LOC100422538 Gene

recombination signal binding protein for immunoglobulin kappa J region pseudogene

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]

IGSF6-DREV1 Gene

region containing immunoglobulin superfamily, member 6 and DREV1

ISLR Gene

immunoglobulin superfamily containing leucine-rich repeat

Predicted to be involved in cell adhesion. Located in extracellular exosome. [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)

IGLL4P Gene

immunoglobulin lambda-like polypeptide 4, 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]

IGAD1 Gene

immunoglobulin A (IgA) deficiency susceptibility 1

OSCAR Gene

osteoclast associated, immunoglobulin-like receptor

Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated receptor (OSCAR), which is a member of the leukocyte receptor complex protein family that plays critical roles in the regulation of both innate and adaptive immune responses. The encoded protein may play a role in oxidative stress-mediated atherogenesis as well as monocyte adhesion. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

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]

IGHD2-2 Gene

immunoglobulin heavy diversity 2-2

IGHD2-8 Gene

immunoglobulin heavy diversity 2-8

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)

IGHVII-49-1 Gene

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

IGHD3-9 Gene

immunoglobulin heavy diversity 3-9

IGHD3-3 Gene

immunoglobulin heavy diversity 3-3

IGHD3-3 belongs to a cluster of approximately 25 functional diversity (D) genes in the immunoglobulin (Ig) heavy chain locus on chromosome 14. For background information on the Ig heavy chain and the D gene cluster, see (MIM 146910).[supplied by OMIM, Apr 2008]

SIGIRR Gene

single immunoglobulin and toll-interleukin 1 receptor (TIR) domain

Involved in negative regulation of Toll signaling pathway. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC105379645 Gene

killer cell immunoglobulin-like receptor 2DL2

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]

IGHJ1P Gene

immunoglobulin heavy joining 1P (pseudogene)

LAIR1 Gene

leukocyte-associated immunoglobulin-like receptor 1

The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

LAIR2 Gene

leukocyte-associated immunoglobulin-like receptor 2

The protein encoded by this gene is a member of the immunoglobulin superfamily. It was identified by its similarity to leukocyte-associated immunoglobulin-like receptor 1, a membrane-bound receptor that modulates innate immune response. The protein encoded by this locus is a soluble receptor that may play roles in both inhibition of collagen-induced platelet aggregation and vessel formation during placental implantation. This gene maps to a region of 19q13.4, termed the leukocyte receptor cluster, which contains 29 genes in the immunoglobulin superfamily. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]

IGHG4 Gene

immunoglobulin heavy constant gamma 4 (G4m marker)

Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in antibacterial humoral response and complement activation, classical pathway. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

IGHG1 Gene

immunoglobulin heavy constant gamma 1 (G1m marker)

Enables Fc-gamma receptor I complex binding activity. Involved in antibody-dependent cellular cytotoxicity and complement-dependent cytotoxicity. Located in extracellular space. Part of IgG immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

IGHG2 Gene

immunoglobulin heavy constant gamma 2 (G2m marker)

Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in antibacterial humoral response and complement activation, classical pathway. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

IGHG3 Gene

immunoglobulin heavy constant gamma 3 (G3m marker)

Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in antibacterial humoral response and complement activation, classical pathway. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

IGHGP Gene

immunoglobulin heavy constant gamma P (non-functional)

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)

IGLCOR22-1 Gene

immunoglobulin lambda constant/OR22-1 (pseudogene)

IGLCOR22-2 Gene

immunoglobulin lambda constant/OR22-2 (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)

LOC105379650 Gene

killer cell immunoglobulin-like receptor 2DS1

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)

KIR2DS5 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

1060P11.3 Gene

killer cell immunoglobulin-like receptor, three domains, pseudogene

KIR2DS2 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

LOC100422604 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 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)

IGJP1 Gene

immunoglobulin J polypeptide pseudogene 1

WFIKKN2 Gene

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2

The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008]

WFIKKN1 Gene

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1

This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008]

KIR3DL1 Gene

killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR3DL2 Gene

killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]

KIR3DL3 Gene

killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. [provided by RefSeq, Jul 2008]

IGHD3-22 Gene

immunoglobulin heavy diversity 3-22

LILRP1 Gene

leukocyte immunoglobulin-like receptor pseudogene 1

LILRP2 Gene

leukocyte immunoglobulin-like receptor pseudogene 2

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]

LOC102725035 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

IGHJ3P Gene

immunoglobulin heavy joining 3P (pseudogene)

IGKC Gene

immunoglobulin kappa constant

Predicted to enable antigen binding activity. Involved in adaptive immune response. Located in blood microparticle and extracellular exosome. Part of IgG immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

IGBP1P1 Gene

immunoglobulin (CD79A) binding protein 1 pseudogene 1

IGBP1P2 Gene

immunoglobulin (CD79A) binding protein 1 pseudogene 2

Predicted to enable protein phosphatase 2A binding activity. Predicted to be involved in regulation of dephosphorylation. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

IGBP1P3 Gene

immunoglobulin (CD79A) binding protein 1 pseudogene 3

IGBP1P4 Gene

immunoglobulin (CD79A) binding protein 1 pseudogene 4

IGBP1P5 Gene

immunoglobulin (CD79A) binding protein 1 pseudogene 5

IGLJCOR18 Gene

immunoglobulin lambda joining-constant/OR18 (pseudogene)

IGHD1-14 Gene

immunoglobulin heavy diversity 1-14 (non-functional)

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]

TMIGD3 Gene

transmembrane and immunoglobulin domain containing 3

This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:140), thus resulting in a fusion product. [provided by RefSeq, Nov 2014]

TMIGD2 Gene

transmembrane and immunoglobulin domain containing 2

Enables coreceptor activity. Involved in positive regulation of T cell activation; positive regulation of angiogenesis; and positive regulation of cytokine production. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC102725023 Gene

killer cell immunoglobulin-like receptor 2DS3 allele 0020101

IGKV1OR15-118 Gene

immunoglobulin kappa variable 1/OR15-118 (pseudogene)

IGHD4-17 Gene

immunoglobulin heavy diversity 4-17

IGHD4-11 Gene

immunoglobulin heavy diversity 4-11 (non-functional)

IGHD2OR15-2B Gene

immunoglobulin heavy diversity 2/OR15-2B (non-functional)

IGHD2OR15-2A Gene

immunoglobulin heavy diversity 2/OR15-2A (non-functional)

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]

LOC102723407 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

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]

IGHMBP2 Gene

immunoglobulin mu binding protein 2

This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]

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)

IGSF11 Gene

immunoglobulin superfamily, member 11

IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM, Apr 2005]

VSIG10L Gene

V-set and immunoglobulin domain containing 10 like

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

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)

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)

KIR2DS4 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS3 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS1 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

IGHVII-43-1 Gene

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

IGDCC3 Gene

immunoglobulin superfamily, DCC subclass, member 3

Predicted to be involved in cell-cell adhesion. Predicted to act upstream of or within neuromuscular process controlling balance. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

IGDCC4 Gene

immunoglobulin superfamily, DCC subclass, member 4

Predicted to be involved in cell-cell adhesion. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LRIG3 Gene

leucine-rich repeats and immunoglobulin-like domains 3

Predicted to act upstream of or within otolith morphogenesis. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

LRIG2 Gene

leucine-rich repeats and immunoglobulin-like domains 2

This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

LRIG1 Gene

leucine-rich repeats and immunoglobulin-like domains 1

Predicted to act upstream of or within several processes, including innervation; otolith morphogenesis; and sensory perception of sound. Predicted to be located in plasma membrane. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

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)

LOC105371448 Gene

immunoglobulin superfamily DCC subclass member 3-like

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]

IGKJ1 Gene

immunoglobulin kappa joining 1

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]

IGKJ3 Gene

immunoglobulin kappa joining 3

IGKJ5 Gene

immunoglobulin kappa joining 5

IGKJ@ Gene

immunoglobulin kappa joining 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 (see MIM 146980) and joining (J) genes. 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]

IGHVIII-47-1 Gene

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

IGHD4OR15-4B Gene

immunoglobulin heavy diversity 4/OR15-4B (non-functional)

IGHD2-21 Gene

immunoglobulin heavy diversity 2-21

IGHVII-40-1 Gene

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

IGHD Gene

immunoglobulin heavy constant delta

Predicted to enable antigen binding activity. Involved in positive regulation of interleukin-1 production. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

IGLVVI-25-1 Gene

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

IGHD1-20 Gene

immunoglobulin heavy diversity 1-20

IGHD1-26 Gene

immunoglobulin heavy diversity 1-26

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)

IGHE Gene

immunoglobulin heavy constant epsilon

Enables immunoglobulin receptor binding activity. Involved in several processes, including B cell mediated immunity; Fc receptor-mediated immune complex endocytosis; and leukocyte degranulation. Located in extracellular space and plasma membrane. Part of IgE B cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

IGHD6-6 Gene

immunoglobulin heavy diversity 6-6

ISLR2 Gene

immunoglobulin superfamily containing leucine-rich repeat 2

Predicted to be involved in positive regulation of axon extension. Predicted to be located in plasma membrane. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Mar 2025]

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)

IGFN1 Gene

immunoglobulin-like and fibronectin type III domain containing 1

Predicted to be located in Z disc and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

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)

IGHA2 Gene

immunoglobulin heavy constant alpha 2 (A2m marker)

Contributes to immunoglobulin receptor binding activity. Involved in glomerular filtration and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

IGHA1 Gene

immunoglobulin heavy constant alpha 1

Contributes to immunoglobulin receptor binding activity. Involved in glomerular filtration and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

LOC338667 Gene

V-set and immunoglobulin domain-containing protein 10-like

Predicted to enable cell adhesion molecule binding activity. Predicted to be involved in cell-cell adhesion. Predicted to be located in membrane. Predicted to be active in cell-cell junction and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

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]

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)

TIE1 Gene

tyrosine kinase with immunoglobulin-like and EGF-like domains 1

This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

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]

IGKJ2 Gene

immunoglobulin kappa joining 2

IGKJ4 Gene

immunoglobulin kappa joining 4

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)

IGLC4 Gene

immunoglobulin lambda constant 4 (pseudogene)

IGLC5 Gene

immunoglobulin lambda constant 5 (pseudogene)

IGLC6 Gene

immunoglobulin lambda constant 6 (Kern+Oz- marker, gene/pseudogene)

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]

IGLC7 Gene

immunoglobulin lambda constant 7

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 IgG immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

IGLC1 Gene

immunoglobulin lambda constant 1 (Mcg marker)

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]

IGLC2 Gene

immunoglobulin lambda constant 2 (Kern-Oz- marker)

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]

IGLC3 Gene

immunoglobulin lambda constant 3 (Kern-Oz+ marker)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in blood microparticle and extracellular exosome. Part of IgG immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

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]

IGES Gene

immunoglobulin E concentration, serum

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)

KIR3DS1 Gene

killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

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]

LOC100421901 Gene

immunoglobulin (CD79A) binding protein 1 pseudogene

IGHD4OR15-4A Gene

immunoglobulin heavy diversity 4/OR15-4A (non-functional)

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]

LOC102725034 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

CYAT1 Gene

immunoglobulin lambda light chain-like

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]

IGHM Gene

immunoglobulin heavy constant mu

Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see MIM 147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by an individual C region gene, that determines the isotype of the antibody and provides effector or signaling functions. The heavy chain V region is encoded by 1 each of 3 types of genes: V genes (see MIM 147070), joining (J) genes (see MIM 147010), and diversity (D) genes (see MIM 146910). The C region genes are clustered downstream of the V region genes within the heavy chain locus on chromosome 14. The IGHM gene encodes the C region of the mu heavy chain, which defines the IgM isotype. Naive B cells express the transmembrane forms of IgM and IgD (see IGHD; MIM 1471770) on their surface. During an antibody response, activated B cells can switch to the expression of individual downstream heavy chain C region genes by a process of somatic recombination known as isotype switching. In addition, secreted Ig forms that act as antibodies can be produced by alternative RNA processing of the heavy chain C region sequences. Although the membrane forms of all Ig isotypes are monomeric, secreted IgM forms pentamers, and occasionally hexamers, in plasma (summary by Janeway et al., 2005).[supplied by OMIM, Aug 2010]

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]

IGLL3P Gene

immunoglobulin lambda-like polypeptide 3, pseudogene

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)

LOC100887081 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 pseudogene

LOC102725031 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

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]

KIR2DL5B Gene

killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL5A Gene

killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

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)

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]

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]

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]

IGHDOR15@ Gene

immunoglobulin heavy diversity orphans on chromosome 15

LILRB5 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB4 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB3 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB2 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LILRB1 Gene

leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1

This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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]

LOC105379662 Gene

killer cell immunoglobulin-like receptor 2DS1

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]

IGHD1-7 Gene

immunoglobulin heavy diversity 1-7

IGHD1-1 Gene

immunoglobulin heavy diversity 1-1

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]

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]

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)

IGHD3-16 Gene

immunoglobulin heavy diversity 3-16

IGHD3-10 Gene

immunoglobulin heavy diversity 3-10

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)

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]

MILR1 Gene

mast cell immunoglobulin-like receptor 1

Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in cell surface receptor signaling pathway; mast cell degranulation; and negative regulation of mast cell activation. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

IGHJ2P Gene

immunoglobulin heavy joining 2P (pseudogene)

IGHVIII-76-1 Gene

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

LOC102724123 Gene

immunoglobulin superfamily member 3-like

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)

RBPJ Gene

recombination signal binding protein for immunoglobulin kappa J region

The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]

IGHD4-23 Gene

immunoglobulin heavy diversity 4-23 (non-functional)

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]

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]

IGHD4-4 Gene

immunoglobulin heavy diversity 4-4

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]

IGHD5OR15-5B Gene

immunoglobulin heavy diversity 5/OR15-5B (non-functional)

IGHD5OR15-5A Gene

immunoglobulin heavy diversity 5/OR15-5A (non-functional)

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]

LILRA6 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6

Predicted to be involved in immune response-regulating signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LILRA4 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4

This gene encodes an immunoglobulin-like cell surface protein that is expressed predominantly on plasmacytoid dendritic cells (PDCs) and modulates the function of these cells in the immune response. Expression of this gene is downregulated by interleukin 3 (IL3). This gene is one of a cluster of highly related genes located at chromosomal region 19q13.4. [provided by RefSeq, Jan 2015]

LILRA5 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5

The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

LILRA2 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2

This gene encodes a member of a family of immunoreceptors that are expressed predominantly on monocytes and B cells, and at lower levels on dendritic cells and natural killer cells. The encoded protein is an activating receptor that inhibits dendritic cell differentiation and antigen presentation and suppresses innate immune response. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and there is a pseudogene for this gene on chromosome 3. [provided by RefSeq, Mar 2014]

LILRA3 Gene

leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3

This gene encodes a member of a family of immunoreceptors that are expressed predominantly in monocytes and B cells, and at lower levels in dendritic cells and natural killer cells. The encoded protein lacks the transmembrane region found in other members of this family. It acts as a soluble receptor for class I major histocompatibility complex (MHC) antigens. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and is polymorphic in human populations, with many individuals containing a deletion of this genomic region. [provided by RefSeq, Mar 2014]

LILRA1 Gene

leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1

This gene encodes an activating member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein is predominantly expressed in B cells, interacts with major histocompatibility complex class I ligands, and contributes to the regulation of immune responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

IGHD1OR15-1B Gene

immunoglobulin heavy diversity 1/OR15-1B (non-functional)

IGHD1OR15-1A Gene

immunoglobulin heavy diversity 1/OR15-1A (non-functional)

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]

IGHD5-18 Gene

immunoglobulin heavy diversity 5-18

IGHD5-12 Gene

immunoglobulin heavy diversity 5-12

PIGR Gene

polymeric immunoglobulin receptor

This gene is a member of the immunoglobulin superfamily. The encoded poly-Ig receptor binds polymeric immunoglobulin molecules at the basolateral surface of epithelial cells; the complex is then transported across the cell to be secreted at the apical surface. A significant association was found between immunoglobulin A nephropathy and several SNPs in this gene.[provided by RefSeq, Sep 2009]

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]

LOC105379433 Gene

immunoglobulin superfamily member 2-like

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]

IGHD5-5 Gene

immunoglobulin heavy diversity 5-5

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]

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]

PVRIG Gene

poliovirus receptor related immunoglobulin domain containing

Enables phosphatase binding activity and signaling receptor activity. Involved in negative regulation of T cell receptor signaling pathway. Located in plasma membrane. [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)

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)

LOC105369139 Gene

killer cell immunoglobulin-like receptor 2DS3

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)

CD79B Gene

CD79b molecule, immunoglobulin-associated beta

The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

CD79A Gene

CD79a molecule, immunoglobulin-associated alpha

The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

IGLJ@ Gene

immunoglobulin lambda joining 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 (see MIM 147240) and joining (J) genes. 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]

IGLJ3 Gene

immunoglobulin lambda joining 3

IGLJ2 Gene

immunoglobulin lambda joining 2

IGLJ1 Gene

immunoglobulin lambda joining 1

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]

IGLJ7 Gene

immunoglobulin lambda joining 7

IGLJ6 Gene

immunoglobulin lambda joining 6

IGLJ5 Gene

immunoglobulin lambda joining 5 (non-functional)

IGLJ4 Gene

immunoglobulin lambda joining 4 (non-functional)

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]

LRIT2 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 2

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

LRIT3 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 3

This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]

LRIT1 Gene

leucine-rich repeat, immunoglobulin-like and transmembrane domains 1

Predicted to be involved in visual perception. Predicted to be located in dendrite; endoplasmic reticulum; and membrane. Predicted to be active in endoplasmic reticulum membrane. [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)

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]

IGHD7-27 Gene

immunoglobulin heavy diversity 7-27

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)

SEMA3A Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A

This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008]

SEMA3C Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C

This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]

SEMA3B Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B

The protein encoded by this gene belongs to the class-3 semaphorin/collapsin family, whose members function in growth cone guidance during neuronal development. This family member inhibits axonal extension and has been shown to act as a tumor suppressor by inducing apoptosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

SEMA3E Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

SEMA3D Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D

This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016]

SEMA3G Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G

The transcription of this gene is activated by PPAR-gamma, and the resulting protein product plays a role in endothelial cell migration. Expression of this gene also inhibits tumor cell migration and invasion. [provided by RefSeq, Jul 2016]

SEMA3F Gene

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F

This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

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]

IGHD5-24 Gene

immunoglobulin heavy diversity 5-24 (non-functional)

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)

KIR3DP1 Gene

killer cell immunoglobulin-like receptor, three domains, pseudogene 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. This gene is considered to be a pseudogene based on the absence of transcription and it lacks several functional domains compared to other killer cell immunoglobulin-like receptors. A rare haplotype, the result of a recombinantion event, has two copies of this gene, one of which may encode a secreted protein. (PMID: 15580659)[provided by RefSeq, Mar 2011]

VSIG10 Gene

V-set and immunoglobulin domain containing 10

Predicted to enable cell adhesion molecule binding activity. Predicted to be involved in cell-cell adhesion. Predicted to be located in membrane. Predicted to be active in cell-cell junction and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

LOC642131 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

IGKV3OR22-2 Gene

immunoglobulin kappa variable 3/OR22-2 (pseudogene)

LOC100631370 Gene

immunoglobulin superfamily, DCC subclass, member 3 pseudogene

IGLV1-62 Gene

immunoglobulin lambda variable 1-62 (pseudogene)

TIMD4 Gene

T-cell immunoglobulin and mucin domain containing 4

Predicted to enable phosphatidylserine binding activity. Predicted to be involved in apoptotic cell clearance and cytoskeletal rearrangement involved in phagocytosis, engulfment. Predicted to be located in extracellular region and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

IGHV7-56 Gene

immunoglobulin heavy variable 7-56 (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)

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)

VSIG8 Gene

V-set and immunoglobulin domain containing 8

Enables RNA binding activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

VSIG4 Gene

V-set and immunoglobulin domain containing 4

This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses. This protein is also a receptor for the complement component 3 fragments C3b and iC3b. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

VSIG2 Gene

V-set and immunoglobulin domain containing 2

Predicted to be involved in lipid metabolic process. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

VSIG1 Gene

V-set and immunoglobulin domain containing 1

This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and glutamic acid/proline (EP) repeats at the C-terminal region. The gene is expressed in normal stomach and testis, as well as in gastric, esophageal and ovarian cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

KIR2DP1 Gene

killer cell immunoglobulin-like receptor, two domains, pseudogene 1

Predicted to be involved in immune response-regulating signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

IGLL2P Gene

immunoglobulin lambda-like polypeptide 2, pseudogene

This locus represents a pseudogene of immunoglobulin lambda-like polypeptide 1. However, it appears to be co-transcribed with an adjacent glucuronidase, beta pseudogene. The transcript including sequence for both pseudogenes is represented by NR_024448, GeneID 91316. [provided by RefSeq, Jul 2011]

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]

IGHD2-15 Gene

immunoglobulin heavy diversity 2-15

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)

IGKV1OR1-1 Gene

immunoglobulin kappa variable 1/OR1-1 (pseudogene)

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]

IGSF23 Gene

immunoglobulin superfamily, member 23

This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Nov 2011]

IGSF22 Gene

immunoglobulin superfamily, member 22

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]

IGHV2-10 Gene

immunoglobulin heavy variable 2-10 (pseudogene)

TMIGD1 Gene

transmembrane and immunoglobulin domain containing 1

Predicted to enable cell-cell adhesion mediator activity and protein homodimerization activity. Involved in several processes, including negative regulation of apoptotic process; regulation of cell migration; and regulation of membrane permeability. Located in cytosol; mitochondrion; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

SEMA4A Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A

This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

SEMA4B Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B

Predicted to enable chemorepellent activity; neuropilin binding activity; and semaphorin receptor binding activity. Predicted to be involved in several processes, including axon guidance; neural crest cell migration; and semaphorin-plexin signaling pathway. Predicted to be located in membrane and synapse. Predicted to be active in glutamatergic synapse and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025]

SEMA4C Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C

Predicted to enable chemorepellent activity; neuropilin binding activity; and semaphorin receptor binding activity. Involved in muscle cell differentiation and positive regulation of stress-activated MAPK cascade. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

SEMA4D Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D

Enables identical protein binding activity; semaphorin receptor binding activity; and transmembrane signaling receptor activity. Involved in several processes, including ossification involved in bone maturation; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and regulation of neuron projection development. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

SEMA4F Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F

This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

SEMA4G Gene

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

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]

KIR2DL3 Gene

killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL2 Gene

killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL1 Gene

killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL4 Gene

killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the `framework` loci that is present on all haplotypes. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016]

IGKV1OR2-118 Gene

immunoglobulin kappa variable 1/OR2-118 (pseudogene)

IGL Gene

immunoglobulin lambda locus

Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. There are two classes of light chains, kappa and lambda. This region represents the germline organization of the lambda light chain locus. The locus includes V (variable), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single V segment with a J segment; 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, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Several V segments and three C segments are known to be incapable of encoding a protein and are considered pseudogenes. The locus also includes several non-immunoglobulin genes, many of which are pseudogenes or are predicted by automated computational analysis or homology to other species. [provided by RefSeq, Jul 2008]

IGK Gene

immunoglobulin kappa locus

IGH Gene

immunoglobulin heavy locus

Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; this partially rearranged D-J gene is then joined to a V segment. The rearranged V-D-J is then transcribed with the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the V-D-J gene is brought in proximity to one of the IGHG, IGHA, or IGHE genes and each cell expresses either the gamma, alpha, or epsilon heavy chain. 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 addition of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Due to polymorphism, the numbers of functional V, J, and D genes differ among individuals and some V, D, J, and C segments may be pseudogenes. [provided by RefSeq, Dec 2017]

PVRIG2P Gene

poliovirus receptor related immunoglobulin domain containing 2, 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]

LOC107987462 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

LOC107987425 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

LOC124905743 Gene

low affinity immunoglobulin gamma Fc region receptor III-B

LOC112268354 Gene

killer cell immunoglobulin-like receptor 2DL4-like

immunoglobulin igg2 deficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the immunoglobulin igg2 deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

igg2 deficiency, selective Gene Set

From OMIM Gene-Disease Associations

genes associated with the igg2 deficiency, selective phenotype from the curated OMIM Gene-Disease Associations dataset.

igg2 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term igg2 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

increased IgG2 level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased IgG2 level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal IgG2 level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal IgG2 level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

igg immunoglobulin transcytosis in epithelial cells mediated by fcrn immunoglobulin receptor Gene Set

From GO Biological Process Annotations 2015

genes participating in the igg immunoglobulin transcytosis in epithelial cells mediated by fcrn immunoglobulin receptor biological process from the curated GO Biological Process Annotations 2015 dataset.

immunoglobulin production involved in immunoglobulin mediated immune response Gene Set

From GO Biological Process Annotations 2015

genes participating in the immunoglobulin production involved in immunoglobulin mediated immune response biological process from the curated GO Biological Process Annotations 2015 dataset.

immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor Gene Set

From GO Biological Process Annotations 2015

genes participating in the immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor biological process from the curated GO Biological Process Annotations 2015 dataset.

immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor Gene Set

From GO Biological Process Annotations 2023

genes participating in the immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor biological process from the curated GO Biological Process Annotations 2023 dataset.

IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor Gene Set

From GO Biological Process Annotations 2023

genes participating in the IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor biological process from the curated GO Biological Process Annotations 2023 dataset.

immunoglobulin production involved in immunoglobulin-mediated immune response Gene Set

From GO Biological Process Annotations 2023

genes participating in the immunoglobulin production involved in immunoglobulin-mediated immune response biological process from the curated GO Biological Process Annotations 2023 dataset.

immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor Gene Set

From GO Biological Process Annotations 2025

genes participating in the immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor biological process from the curated GO Biological Process Annotations 2025 dataset.

IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor Gene Set

From GO Biological Process Annotations 2025

genes participating in the IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor biological process from the curated GO Biological Process Annotations 2025 dataset.

immunoglobulin production involved in immunoglobulin-mediated immune response Gene Set

From GO Biological Process Annotations 2025

genes participating in the immunoglobulin production involved in immunoglobulin-mediated immune response biological process from the curated GO Biological Process Annotations 2025 dataset.

factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Immunoglobulin a deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunoglobulin a deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Immunoglobulin a deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunoglobulin a deficiency 1 from the curated CTD Gene-Disease Associations dataset.

immunoglobulin alpha deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease immunoglobulin alpha deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

selective immunoglobulin deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease selective immunoglobulin deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

immunoglobulin alpha deficiency Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease immunoglobulin alpha deficiency in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

selective immunoglobulin deficiency disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease selective immunoglobulin deficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

immunoglobulin a deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunoglobulin a deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

immunoglobulin a deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunoglobulin a deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Selective Immunoglobulin A Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Selective Immunoglobulin A Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Immunoglobulin alpha deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Immunoglobulin alpha deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Selective immunoglobulin deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Selective immunoglobulin deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Immunoglobulin A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunoglobulin A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset.

eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

protein c deficiency; protein s deficiency; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.

Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.

Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.

Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset.

Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

immunoglobulin complex, circulating Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the immunoglobulin complex, circulating cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

pentameric igm immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the pentameric igm immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

secretory iga immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the secretory iga immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

monomeric iga immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the monomeric iga immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

iga immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the iga immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

dimeric iga immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the dimeric iga immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

iga immunoglobulin complex, circulating Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the iga immunoglobulin complex, circulating cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

igm immunoglobulin complex, circulating Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the igm immunoglobulin complex, circulating cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

secretory dimeric iga immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the secretory dimeric iga immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

igm immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the igm immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

polymeric iga immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the polymeric iga immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

hexameric igm immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the hexameric igm immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

immunoglobulin complex, circulating Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the immunoglobulin complex, circulating cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

secretory iga immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the secretory iga immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

igd immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the igd immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

iga immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the iga immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

ige immunoglobulin complex, circulating Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the ige immunoglobulin complex, circulating cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

iga immunoglobulin complex, circulating Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the iga immunoglobulin complex, circulating cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

igg immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the igg immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

igm immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the igm immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

ige immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the ige immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

heavy chain immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the heavy chain immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

polymeric iga immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the polymeric iga immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

igy immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the igy immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Immunoglobulin E Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Immunoglobulin E in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Immunoglobulin A Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Immunoglobulin A in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Intravenous Immunoglobulin Gene Set

From DrugBank Drug Targets

interacting proteins for the Intravenous Immunoglobulin drug from the curated DrugBank Drug Targets dataset.

immunoglobulin e receptor-mediated histamine release from basophils Gene Set

From GAD Gene-Disease Associations

genes associated with the disease immunoglobulin e receptor-mediated histamine release from basophils in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

immunoglobulin e Gene Set

From GAD Gene-Disease Associations

genes associated with the disease immunoglobulin e in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

immunoglobulin a Gene Set

From GAD Gene-Disease Associations

genes associated with the disease immunoglobulin a in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

immunoglobulin Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term immunoglobulin in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

immunoglobulin production in mucosal tissue Gene Set

From GO Biological Process Annotations 2015

genes participating in the immunoglobulin production in mucosal tissue biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of immunoglobulin production in mucosal tissue Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of immunoglobulin production in mucosal tissue biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of immunoglobulin biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of immunoglobulin biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

somatic recombination of immunoglobulin gene segments Gene Set

From GO Biological Process Annotations 2015

genes participating in the somatic recombination of immunoglobulin gene segments biological process from the curated GO Biological Process Annotations 2015 dataset.

immunoglobulin production Gene Set

From GO Biological Process Annotations 2015

genes participating in the immunoglobulin production biological process from the curated GO Biological Process Annotations 2015 dataset.

adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Gene Set

From GO Biological Process Annotations 2015

genes participating in the adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biological process from the curated GO Biological Process Annotations 2015 dataset.

immunoglobulin transcytosis in epithelial cells Gene Set

From GO Biological Process Annotations 2015

genes participating in the immunoglobulin transcytosis in epithelial cells biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of immunoglobulin mediated immune response Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of immunoglobulin mediated immune response biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of immunoglobulin mediated immune response Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of immunoglobulin mediated immune response biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of immunoglobulin production Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of immunoglobulin production biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of immunoglobulin production Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of immunoglobulin production biological process from the curated GO Biological Process Annotations 2015 dataset.

somatic recombination of immunoglobulin genes involved in immune response Gene Set

From GO Biological Process Annotations 2015

genes participating in the somatic recombination of immunoglobulin genes involved in immune response biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of humoral immune response mediated by circulating immunoglobulin Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of humoral immune response mediated by circulating immunoglobulin biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of immunoglobulin secretion Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of immunoglobulin secretion biological process from the curated GO Biological Process Annotations 2015 dataset.

immunoglobulin secretion involved in immune response Gene Set

From GO Biological Process Annotations 2015

genes participating in the immunoglobulin secretion involved in immune response biological process from the curated GO Biological Process Annotations 2015 dataset.

immunoglobulin biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the immunoglobulin biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of immunoglobulin secretion Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of immunoglobulin secretion biological process from the curated GO Biological Process Annotations 2015 dataset.

immunoglobulin secretion Gene Set

From GO Biological Process Annotations 2015

genes participating in the immunoglobulin secretion biological process from the curated GO Biological Process Annotations 2015 dataset.

immunoglobulin v(d)j recombination Gene Set

From GO Biological Process Annotations 2015

genes participating in the immunoglobulin v(d)j recombination biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of immunoglobulin production in mucosal tissue Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of immunoglobulin production in mucosal tissue biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of immunoglobulin production Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of immunoglobulin production biological process from the curated GO Biological Process Annotations 2015 dataset.

somatic hypermutation of immunoglobulin genes Gene Set

From GO Biological Process Annotations 2015

genes participating in the somatic hypermutation of immunoglobulin genes biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of humoral immune response mediated by circulating immunoglobulin Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of humoral immune response mediated by circulating immunoglobulin biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of immunoglobulin secretion Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of immunoglobulin secretion biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of immunoglobulin biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of immunoglobulin biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

immunoglobulin mediated immune response Gene Set

From GO Biological Process Annotations 2015

genes participating in the immunoglobulin mediated immune response biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of humoral immune response mediated by circulating immunoglobulin Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of humoral immune response mediated by circulating immunoglobulin biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of immunoglobulin mediated immune response Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of immunoglobulin mediated immune response biological process from the curated GO Biological Process Annotations 2015 dataset.

humoral immune response mediated by circulating immunoglobulin Gene Set

From GO Biological Process Annotations 2015

genes participating in the humoral immune response mediated by circulating immunoglobulin biological process from the curated GO Biological Process Annotations 2015 dataset.

immunoglobulin complex, circulating Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the immunoglobulin complex, circulating cellular component from the curated GO Cellular Component Annotations 2015 dataset.

pentameric igm immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the pentameric igm immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

secretory iga immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the secretory iga immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

monomeric iga immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the monomeric iga immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

iga immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the iga immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

dimeric iga immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the dimeric iga immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

iga immunoglobulin complex, circulating Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the iga immunoglobulin complex, circulating cellular component from the curated GO Cellular Component Annotations 2015 dataset.

secretory dimeric iga immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the secretory dimeric iga immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

igm immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the igm immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

polymeric iga immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the polymeric iga immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

igm immunoglobulin complex, circulating Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the igm immunoglobulin complex, circulating cellular component from the curated GO Cellular Component Annotations 2015 dataset.

hexameric igm immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the hexameric igm immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

immunoglobulin receptor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the immunoglobulin receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

polymeric immunoglobulin receptor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the polymeric immunoglobulin receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

immunoglobulin receptor binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the immunoglobulin receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

immunoglobulin binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the immunoglobulin binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Immunoglobulin A Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Immunoglobulin A phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

abnormal immunoglobulin level Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormal immunoglobulin level phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormal immunoglobulin level Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal immunoglobulin level phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

High affinity immunoglobulin epsilon receptor subunit beta Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the High affinity immunoglobulin epsilon receptor subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Immunoglobulin C1-set Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Immunoglobulin C1-set protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Immunoglobulin C2-set Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Immunoglobulin C2-set protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Immunoglobulin V-set domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Immunoglobulin V-set domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Immunoglobulin Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Immunoglobulin protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Immunoglobulin J chain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Immunoglobulin J chain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Immunoglobulin subtype Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Immunoglobulin subtype protein domain from the InterPro Predicted Protein Domain Annotations dataset.

V-set and immunoglobulin domain-containing protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the V-set and immunoglobulin domain-containing protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycoside hydrolase, family 2/20, immunoglobulin-like beta-sandwich domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycoside hydrolase, family 2/20, immunoglobulin-like beta-sandwich domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Immunoglobulin I-set Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Immunoglobulin I-set protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Immunoglobulin C2-set-like, ligand-binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Immunoglobulin C2-set-like, ligand-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Immunoglobulin-like domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Immunoglobulin-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Immunoglobulin-like fold Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Immunoglobulin-like fold protein domain from the InterPro Predicted Protein Domain Annotations dataset.

CD80-like, immunoglobulin C2-set Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the CD80-like, immunoglobulin C2-set protein domain from the InterPro Predicted Protein Domain Annotations dataset.

CD47 immunoglobulin-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the CD47 immunoglobulin-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Adhesion molecule, immunoglobulin-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adhesion molecule, immunoglobulin-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Natural killer cell receptor 2B4 immunoglobulin domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Natural killer cell receptor 2B4 immunoglobulin domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Immunoglobulin subtype 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Immunoglobulin subtype 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Immunoglobulin/major histocompatibility complex, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Immunoglobulin/major histocompatibility complex, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alpha-1B-glycoprotein/leukocyte immunoglobulin-like receptor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alpha-1B-glycoprotein/leukocyte immunoglobulin-like receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Immunoglobulin E-set Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Immunoglobulin E-set protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycoside hydrolase, family 2, immunoglobulin-like beta-sandwich Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycoside hydrolase, family 2, immunoglobulin-like beta-sandwich protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal immunoglobulin level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal immunoglobulin level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased immunoglobulin level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased immunoglobulin level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal immunoglobulin v(d)j recombination Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal immunoglobulin v(d)j recombination phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal immunoglobulin transcytosis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal immunoglobulin transcytosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal immunoglobulin heavy chain v(d)j recombination Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal immunoglobulin heavy chain v(d)j recombination phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased immunoglobulin level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased immunoglobulin level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal immunoglobulin light chain v-j recombination Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal immunoglobulin light chain v-j recombination phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Primary Immunoglobulin A Nephropathy (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Primary Immunoglobulin A Nephropathy (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Granulocytopenia With Immunoglobulin Abnormality Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Granulocytopenia With Immunoglobulin Abnormality in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Familial Immunoglobulin A Nephropathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Familial Immunoglobulin A Nephropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Monoclonal Immunoglobulin M Proteinemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Monoclonal Immunoglobulin M Proteinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Abnormal Immunoglobulin Level Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormal Immunoglobulin Level in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

stimulatory killer cell immunoglobulin-like receptor signaling pathway Gene Set

From GO Biological Process Annotations 2023

genes participating in the stimulatory killer cell immunoglobulin-like receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset.

somatic hypermutation of immunoglobulin genes Gene Set

From GO Biological Process Annotations 2023

genes participating in the somatic hypermutation of immunoglobulin genes biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of immunoglobulin production Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of immunoglobulin production biological process from the curated GO Biological Process Annotations 2023 dataset.

immunoglobulin mediated immune response Gene Set

From GO Biological Process Annotations 2023

genes participating in the immunoglobulin mediated immune response biological process from the curated GO Biological Process Annotations 2023 dataset.

immunoglobulin V(D)J recombination Gene Set

From GO Biological Process Annotations 2023

genes participating in the immunoglobulin V(D)J recombination biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of immunoglobulin production Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of immunoglobulin production biological process from the curated GO Biological Process Annotations 2023 dataset.

humoral immune response mediated by circulating immunoglobulin Gene Set

From GO Biological Process Annotations 2023

genes participating in the humoral immune response mediated by circulating immunoglobulin biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of immunoglobulin mediated immune response Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of immunoglobulin mediated immune response biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of humoral immune response mediated by circulating immunoglobulin Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of humoral immune response mediated by circulating immunoglobulin biological process from the curated GO Biological Process Annotations 2023 dataset.

somatic recombination of immunoglobulin gene segments Gene Set

From GO Biological Process Annotations 2023

genes participating in the somatic recombination of immunoglobulin gene segments biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of immunoglobulin production in mucosal tissue Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of immunoglobulin production in mucosal tissue biological process from the curated GO Biological Process Annotations 2023 dataset.

somatic recombination of immunoglobulin genes involved in immune response Gene Set

From GO Biological Process Annotations 2023

genes participating in the somatic recombination of immunoglobulin genes involved in immune response biological process from the curated GO Biological Process Annotations 2023 dataset.

adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Gene Set

From GO Biological Process Annotations 2023

genes participating in the adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of immunoglobulin production Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of immunoglobulin production biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of immunoglobulin mediated immune response Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of immunoglobulin mediated immune response biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of immunoglobulin mediated immune response Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of immunoglobulin mediated immune response biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of humoral immune response mediated by circulating immunoglobulin Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of humoral immune response mediated by circulating immunoglobulin biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of immunoglobulin production in mucosal tissue Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of immunoglobulin production in mucosal tissue biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of humoral immune response mediated by circulating immunoglobulin Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of humoral immune response mediated by circulating immunoglobulin biological process from the curated GO Biological Process Annotations 2023 dataset.

hexameric IgM immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the hexameric IgM immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.

monomeric IgA immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the monomeric IgA immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.

dimeric IgA immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the dimeric IgA immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.

secretory IgA immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the secretory IgA immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.

secretory dimeric IgA immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the secretory dimeric IgA immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.

pentameric IgM immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the pentameric IgM immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.

IgM immunoglobulin complex, circulating Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the IgM immunoglobulin complex, circulating cellular component from the curated GO Cellular Component Annotations 2023 dataset.

IgA immunoglobulin complex, circulating Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the IgA immunoglobulin complex, circulating cellular component from the curated GO Cellular Component Annotations 2023 dataset.

polymeric IgA immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the polymeric IgA immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.

immunoglobulin receptor binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the immunoglobulin receptor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

polymeric immunoglobulin receptor activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the polymeric immunoglobulin receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

immunoglobulin receptor activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the immunoglobulin receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

abnormal immunoglobulin V(D)J recombination Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal immunoglobulin V(D)J recombination phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased immunoglobulin level Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal immunoglobulin level Gene Set

From MGI Mouse Phenotype Associations 2023

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

renal glomerular immunoglobulin deposits Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the renal glomerular immunoglobulin deposits phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased immunoglobulin level Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal immunoglobulin transcytosis Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal immunoglobulin heavy chain V(D)J recombination Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal immunoglobulin heavy chain V(D)J recombination phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal immunoglobulin light chain V-J recombination Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal immunoglobulin light chain V-J recombination phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

stimulatory killer cell immunoglobulin-like receptor signaling pathway Gene Set

From GO Biological Process Annotations 2025

genes participating in the stimulatory killer cell immunoglobulin-like receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset.

somatic hypermutation of immunoglobulin genes Gene Set

From GO Biological Process Annotations 2025

genes participating in the somatic hypermutation of immunoglobulin genes biological process from the curated GO Biological Process Annotations 2025 dataset.

humoral immune response mediated by circulating immunoglobulin Gene Set

From GO Biological Process Annotations 2025

genes participating in the humoral immune response mediated by circulating immunoglobulin biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of immunoglobulin production Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of immunoglobulin production biological process from the curated GO Biological Process Annotations 2025 dataset.

immunoglobulin mediated immune response Gene Set

From GO Biological Process Annotations 2025

genes participating in the immunoglobulin mediated immune response biological process from the curated GO Biological Process Annotations 2025 dataset.

immunoglobulin V(D)J recombination Gene Set

From GO Biological Process Annotations 2025

genes participating in the immunoglobulin V(D)J recombination biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of immunoglobulin production Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of immunoglobulin production biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of immunoglobulin mediated immune response Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of immunoglobulin mediated immune response biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of humoral immune response mediated by circulating immunoglobulin Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of humoral immune response mediated by circulating immunoglobulin biological process from the curated GO Biological Process Annotations 2025 dataset.

somatic recombination of immunoglobulin gene segments Gene Set

From GO Biological Process Annotations 2025

genes participating in the somatic recombination of immunoglobulin gene segments biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of immunoglobulin production in mucosal tissue Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of immunoglobulin production in mucosal tissue biological process from the curated GO Biological Process Annotations 2025 dataset.

somatic recombination of immunoglobulin genes involved in immune response Gene Set

From GO Biological Process Annotations 2025

genes participating in the somatic recombination of immunoglobulin genes involved in immune response biological process from the curated GO Biological Process Annotations 2025 dataset.

adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Gene Set

From GO Biological Process Annotations 2025

genes participating in the adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of immunoglobulin production Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of immunoglobulin production biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of immunoglobulin mediated immune response Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of immunoglobulin mediated immune response biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of immunoglobulin mediated immune response Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of immunoglobulin mediated immune response biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of humoral immune response mediated by circulating immunoglobulin Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of humoral immune response mediated by circulating immunoglobulin biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of immunoglobulin production in mucosal tissue Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of immunoglobulin production in mucosal tissue biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of humoral immune response mediated by circulating immunoglobulin Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of humoral immune response mediated by circulating immunoglobulin biological process from the curated GO Biological Process Annotations 2025 dataset.

hexameric IgM immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the hexameric IgM immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.

monomeric IgA immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the monomeric IgA immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.

dimeric IgA immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the dimeric IgA immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.

secretory IgA immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the secretory IgA immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.

secretory dimeric IgA immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the secretory dimeric IgA immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.

pentameric IgM immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the pentameric IgM immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.

IgM immunoglobulin complex, circulating Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the IgM immunoglobulin complex, circulating cellular component from the curated GO Cellular Component Annotations 2025 dataset.

IgA immunoglobulin complex, circulating Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the IgA immunoglobulin complex, circulating cellular component from the curated GO Cellular Component Annotations 2025 dataset.

polymeric IgA immunoglobulin complex Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the polymeric IgA immunoglobulin complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.

immunoglobulin receptor binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the immunoglobulin receptor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

polymeric immunoglobulin binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the polymeric immunoglobulin binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

polymeric immunoglobulin receptor activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the polymeric immunoglobulin receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

immunoglobulin receptor activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the immunoglobulin receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Immunoglobulin light chain amyloidosis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Immunoglobulin light chain amyloidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Immunoglobulin heavy-and-light chain Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Immunoglobulin heavy-and-light chain in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Immunoglobulin heavy chain amyloidosis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Immunoglobulin heavy chain amyloidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Immunoglobulin complex, circulating Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Immunoglobulin complex, circulating cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

IgA immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the IgA immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

IgM immunoglobulin complex, circulating Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the IgM immunoglobulin complex, circulating cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

IgM immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the IgM immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Secretory dimeric IgA immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Secretory dimeric IgA immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Secretory IgA immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Secretory IgA immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Pentameric IgM immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Pentameric IgM immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Polymeric IgA immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Polymeric IgA immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

IgA immunoglobulin complex, circulating Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the IgA immunoglobulin complex, circulating cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Monomeric IgA immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Monomeric IgA immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Dimeric IgA immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Dimeric IgA immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

IgG immunoglobulin complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the IgG immunoglobulin complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

IgM immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the IgM immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

IgE immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the IgE immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

IgG immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the IgG immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

IgA immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the IgA immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Heavy chain immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Heavy chain immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

IgD immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the IgD immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

IgW immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the IgW immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Immunoglobulin complex, circulating Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Immunoglobulin complex, circulating cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Monomeric IgA immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Monomeric IgA immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Secretory dimeric IgA immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Secretory dimeric IgA immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Dimeric IgA immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Dimeric IgA immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Secretory IgA immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Secretory IgA immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Polymeric IgA immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Polymeric IgA immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

IgA immunoglobulin complex, circulating Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the IgA immunoglobulin complex, circulating cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

IgZ immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the IgZ immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

IgY immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the IgY immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Hexameric IgM immunoglobulin complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Hexameric IgM immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

IgG immunoglobulin complex, circulating Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the IgG immunoglobulin complex, circulating cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

IgM immunoglobulin complex, circulating Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the IgM immunoglobulin complex, circulating cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

IgD immunoglobulin complex, GPI-anchored Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the IgD immunoglobulin complex, GPI-anchored cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Immunoglobulin-mediated membranoproliferative glomerulonephritis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunoglobulin-mediated membranoproliferative glomerulonephritis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunoglobulin light chain (AL) amyloidosis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Immunoglobulin light chain (AL) amyloidosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

T-Cell Immunoglobulin and Mucin domain 1 levels Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the T-Cell Immunoglobulin and Mucin domain 1 levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Immunoglobulin G index levels in multiple sclerosis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Immunoglobulin G index levels in multiple sclerosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Composite immunoglobulin trait (IgA x IgG) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Composite immunoglobulin trait (IgA x IgG) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Composite immunoglobulin trait (IgA/IgG) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Composite immunoglobulin trait (IgA/IgG) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Composite immunoglobulin trait (IgA x IgG x IgM) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Composite immunoglobulin trait (IgA x IgG x IgM) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Composite immunoglobulin trait (IgA/IgM) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Composite immunoglobulin trait (IgA/IgM) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Composite immunoglobulin trait (IgA x IgG/IgM) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Composite immunoglobulin trait (IgA x IgG/IgM) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Composite immunoglobulin trait (IgG/IgM) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Composite immunoglobulin trait (IgG/IgM) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Immunoglobulin A Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Immunoglobulin A phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Immunoglobulin measurement (zinc sulfate turbidity test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Immunoglobulin measurement (zinc sulfate turbidity test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Immunoglobulin M against phosphorylcholine (IgM anti-PC) levels Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Immunoglobulin M against phosphorylcholine (IgM anti-PC) levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Response to intravenous immunoglobulin treatment in Kawasaki disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Response to intravenous immunoglobulin treatment in Kawasaki disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Immunoglobulin A vasculitis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Immunoglobulin A vasculitis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Immunoglobulin light chain (AL) amyloidosis (liver involvement) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Immunoglobulin light chain (AL) amyloidosis (liver involvement) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Immunoglobulin light chain (AL) amyloidosis (serum Ig lambda profile) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Immunoglobulin light chain (AL) amyloidosis (serum Ig lambda profile) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Immunoglobulin light chain (AL) amyloidosis (serum IgG profile) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Immunoglobulin light chain (AL) amyloidosis (serum IgG profile) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 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.

Bifunctional peroxisomal enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked ichthyosis with steryl-sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Galactosylceramide beta-galactosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Galactosylceramide beta-galactosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated 17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Endplate acetylcholinesterase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ribose-5-phosphate isomerase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kininogen deficiency, total Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kininogen deficiency, total phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-terminal acetyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Creatine deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Creatine deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Birbeck granule deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Properdin deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Properdin deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PROPERDIN DEFICIENCY, TYPE II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement factor d deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor d deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 8 deficiency type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Testosterone 17-beta-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Testosterone 17-beta-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acyl-CoA dehydrogenase family, member 9, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acyl-CoA dehydrogenase family, member 9, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of 2-methylbutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of isobutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of isobutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral folate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoserine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoserine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine acylcarnitine translocase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Partial hypoxanthine-guanine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinyl-CoA acetoacetate transferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinyl-CoA acetoacetate transferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet-activating factor acetylhydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet-activating factor acetylhydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lipase deficiency combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

5-Oxoprolinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 5-Oxoprolinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency with achalasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proopiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proopiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intrinsic factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutaryl-CoA oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutaryl-CoA oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thiopurine methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thiopurine methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lactate dehydrogenase b deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lactate dehydrogenase b deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of 3-hydroxyacyl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen deficiency, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen deficiency, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Biotinidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Biotinidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of phosphoserine phosphatase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of phosphoserine phosphatase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated growth hormone deficiency type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 Methylcrotonyl-CoA carboxylase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of hyaluronoglucosaminidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hyaluronoglucosaminidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sulfite oxidase deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen activator inhibitor type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monoamine oxidase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monoamine oxidase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor V deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor V deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamate formiminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamate formiminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LEUKOCYTE ADHESION DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Follicle-stimulating hormone deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ganglioside sialidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

C1q deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interferon gamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interferon gamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet glycoprotein IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet glycoprotein IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-acetylaspartate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Triosephosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Triosephosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gaucher disease, atypical, due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aromatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aromatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor II deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, a subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, a subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylcrotonyl CoA carboxylase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosteroid-binding globulin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosteroid-binding globulin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

2,4-Dienoyl-CoA reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 2,4-Dienoyl-CoA reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia with vitamin E deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia with vitamin E deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of galactokinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ACTH deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ACTH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PROPERDIN DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carboxylesterase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carboxylesterase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neonatal intrahepatic cholestasis caused by citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antithrombin III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inosine triphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inosine triphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of pyrroline-5-carboxylate reductase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sarcosine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sarcosine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor v and factor viii, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

L-ferritin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the L-ferritin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arginase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hepatic lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E3-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor IX deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha-fetoprotein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha-fetoprotein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of iodide peroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Caspase-8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Caspase-8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anaphylotoxin inactivator deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anaphylotoxin inactivator deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cytochrome-c oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enterokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enterokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythrocyte amp deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythrocyte amp deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor VII deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor VII deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Apolipoprotein a-i deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Apolipoprotein a-i deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-aminobutyric acid transaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-aminobutyric acid transaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myeloperoxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myeloperoxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial phosphate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor XI deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Porphobilinogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Very long chain acyl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Very long chain acyl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IRAK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortisone reductase deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortisone reductase deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginine:glycine amidinotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arginine:glycine amidinotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscle AMP deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropyrimidinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dihydropyrimidinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dimethylglycine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dimethylglycine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of hydroxymethylglutaryl-CoA lyase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hydroxymethylglutaryl-CoA lyase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-alpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isovaleryl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd59 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sphingolipid activator protein 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sphingolipid activator protein 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ferroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ferroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of steroid 11-beta-monooxygenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dopamine beta hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dopamine beta hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

UDPglucose-4-epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the UDPglucose-4-epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of alpha-mannosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of alpha-mannosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-like growth factor I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-like growth factor I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gluthathione synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fumarase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fumarase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of transaldolase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of transaldolase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial pyruvate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-beta deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MASP2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Argininosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prekallikrein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prekallikrein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chitotriosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chitotriosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial trifunctional protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial trifunctional protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

GTP cyclohydrolase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the GTP cyclohydrolase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of malonyl-CoA decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of malonyl-CoA decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3 beta-Hydroxysteroid dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 beta-Hydroxysteroid dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinate-semialdehyde dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinate-semialdehyde dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked agammaglobulinemia with growth hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Okt4 epitope deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of acetyl-CoA acetyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of acetyl-CoA acetyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mineralocorticoid deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement 1s deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropteridine reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mannose-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mannose-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myd88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd8 deficiency, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fructose-biphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fructose-biphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement factor B deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Beta-hydroxyisobutyryl-CoA deacylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor VIII deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proline dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor H deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamine deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of aromatic-L-amino-acid decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycine N-methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycine N-methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine carbamoyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sucrase-isomaltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sucrase-isomaltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cholesterol monooxygenase (side-chain cleaving) deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fucosyltransferase 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Asparagine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyrylcholine esterase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyrylcholine esterase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerol kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of xanthine oxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of xanthine oxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Urocanate hydratase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Urocanate hydratase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

4-Hydroxyphenylpyruvate dioxygenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Hydroxyphenylpyruvate dioxygenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of factor V and factor VIII, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, b subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, b subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of (R)-20-hydroxysteroid dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of (R)-20-hydroxysteroid dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prolidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prolidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of beta-ureidopropionase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of beta-ureidopropionase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of guanidinoacetate methyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MYD88 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset.

Anemia, Iron-Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Iron-Deficiency from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Platelet Glycoprotein IV Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Platelet Glycoprotein IV Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Phosphate Carrier Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte Adhesion Deficiency, Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset.

Prekallikrein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylenetetrahydrofolate reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylenetetrahydrofolate reductase deficiency from the curated CTD Gene-Disease Associations dataset.

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XI Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XI Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine palmitoyl transferase 1A deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Carbamoyl-Phosphate Synthase I Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Properdin deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset.

Glutathione synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Aniridia cerebellar ataxia mental deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Proopiomelanocortin Deficiency Gene Set

From CTD Gene-Disease Associations

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

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Intrinsic Factor Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Intrinsic Factor Deficiency from the curated CTD Gene-Disease Associations dataset.

Adenosine monophosphate deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

alpha 1-Antitrypsin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Deficiency, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset.

IgA Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lipase deficiency combined Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipase deficiency combined from the curated CTD Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

DNA Repair-Deficiency Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.

Enterokinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset.

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset.

Lecithin Acyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lecithin Acyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Interleukin 2 Receptor, Alpha, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.

Beta ketothiolase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset.

Transaldolase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Succinyl-CoA:3-oxoacid CoA transferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset.

CD8 Deficiency, Familial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset.

Neuraminidase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Folic Acid Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Folic Acid Deficiency from the curated CTD Gene-Disease Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

Vitamin B 12 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

Familial HDL deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial HDL deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine-Acylcarnitine Translocase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency 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.

Methylcobalamin Deficiency, CblG Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset.

Flaujeac factor deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Flaujeac factor deficiency from the curated CTD Gene-Disease Associations dataset.

Ribose 5-Phosphate Isomerase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset.

VLCAD deficiency Gene Set

From CTD Gene-Disease Associations

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

18-Hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Creatine deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Creatine deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Complex III Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset.

PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

dopamine beta hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease dopamine beta hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Ehlers-Danlos syndrome caused by tenascin-X deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset.

Growth mental deficiency syndrome of Myhre Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Ornithine Carbamoyltransferase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ornithine Carbamoyltransferase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Protein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor 8 deficiency, acquired Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylosuccinate lyase deficiency from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of from the curated CTD Gene-Disease Associations dataset.

Thiopurine S methyltranferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thiopurine S methyltranferase deficiency from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

3-Hydroxyacyl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type IB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset.

Vitamin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Molybdenum cofactor deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Molybdenum cofactor deficiency from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Kinase 1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Activator Inhibitor-1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin D Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin D Deficiency from the curated CTD Gene-Disease Associations dataset.

Factor V Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor V Deficiency from the curated CTD Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase Complex Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Ataxia with vitamin E deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset.

Aromatic amino acid decarboxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aromatic amino acid decarboxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor X Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor X Deficiency from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset.

Holocarboxylase Synthetase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Holocarboxylase Synthetase Deficiency from the curated CTD Gene-Disease Associations dataset.

N-acetyl glutamate synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease N-acetyl glutamate synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset.

Dimethylglycine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dimethylglycine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset.

Trehalase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Guanidinoacetate methyltransferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Guanidinoacetate methyltransferase deficiency from the curated CTD Gene-Disease Associations dataset.

Aminoacylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aminoacylase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Antithrombin III Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Antithrombin III Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoenolpyruvate carboxykinase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase deficiency from the curated CTD Gene-Disease Associations dataset.

17-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 17-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Heparin Cofactor II Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heparin Cofactor II Deficiency from the curated CTD Gene-Disease Associations dataset.

Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency from the curated CTD Gene-Disease Associations dataset.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

Arginine:Glycine Amidinotransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arginine:Glycine Amidinotransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Biotinidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

COMPLEMENT COMPONENT C1r/C1s DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT C1r/C1s DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Methionine Adenosyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methionine Adenosyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoenolpyruvate carboxykinase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

Glycine N-Methyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glycine N-Methyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Magnesium Deficiency Gene Set

From CTD Gene-Disease Associations

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

2-Methylbutyryl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 2-Methylbutyryl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glycosylphosphatidylinositol deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor Xiii, A Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor Xiii, A Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte adhesion deficiency type 1 from the curated CTD Gene-Disease Associations dataset.

Isobutyryl-CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isobutyryl-CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Dihydropyrimidine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dihydropyrimidine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Corticosteroid-Binding Globulin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corticosteroid-Binding Globulin Deficiency from the curated CTD Gene-Disease Associations dataset.

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

ACTH Deficiency, Isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ACTH Deficiency, Isolated from the curated CTD Gene-Disease Associations dataset.

Factor XIII, B Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XIII, B Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.

GLUT1 DEFICIENCY SYNDROME 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GLUT1 DEFICIENCY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset.

Iron-Refractory Iron Deficiency Anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Iron-Refractory Iron Deficiency Anemia from the curated CTD Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Specific Granule Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Specific Granule Deficiency from the curated CTD Gene-Disease Associations dataset.

Insulin-Like Growth Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Insulin-Like Growth Factor I Deficiency from the curated CTD Gene-Disease Associations dataset.

Complement component 5 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement component 5 deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Component 7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Lactate dehydrogenase deficiency type A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactate dehydrogenase deficiency type A from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E3-Binding Protein Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E3-Binding Protein Deficiency from the curated CTD Gene-Disease Associations dataset.

Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Cortisone reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cortisone reductase deficiency from the curated CTD Gene-Disease Associations dataset.

Peroxisomal ACYL-COA oxidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peroxisomal ACYL-COA oxidase deficiency from the curated CTD Gene-Disease Associations dataset.

NADH cytochrome B5 reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NADH cytochrome B5 reductase deficiency from the curated CTD Gene-Disease Associations dataset.

3b-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3b-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Thiamine Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mitochondrial Complex II Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Complex II Deficiency from the curated CTD Gene-Disease Associations dataset.

Sucrase-isomaltase deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sucrase-isomaltase deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Systemic carnitine deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Systemic carnitine deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma-cystathionase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-cystathionase deficiency from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 4 from the curated CTD Gene-Disease Associations dataset.

Combined Saposin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Saposin Deficiency from the curated CTD Gene-Disease Associations dataset.

Radial Ray Deficiency, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Radial Ray Deficiency, X-Linked from the curated CTD Gene-Disease Associations dataset.

Beta-Ureidopropionase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta-Ureidopropionase Deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 5 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 4 from the curated CTD Gene-Disease Associations dataset.

Protein C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Protein C Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

succinic semialdehyde dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease succinic semialdehyde dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Carboxypeptidase N Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carboxypeptidase N Deficiency from the curated CTD Gene-Disease Associations dataset.

Purine Nucleoside Phosphorylase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Purine Nucleoside Phosphorylase Deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Component 4, Partial Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 4, Partial Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Familial Glucocorticoid Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial Glucocorticoid Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Endplate Acetylcholinesterase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Endplate Acetylcholinesterase Deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XIII Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XIII Deficiency from the curated CTD Gene-Disease Associations dataset.

NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Fructose-1,6-Diphosphatase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fructose-1,6-Diphosphatase Deficiency from the curated CTD Gene-Disease Associations dataset.

MASP2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MASP2 Deficiency from the curated CTD Gene-Disease Associations dataset.

2,4-Dienoyl-CoA Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 2,4-Dienoyl-CoA Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

Alpha-ketoglutarate dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alpha-ketoglutarate dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Factor H Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Factor H Deficiency from the curated CTD Gene-Disease Associations dataset.

VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 2 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 2 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

TRANSCOBALAMIN II DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRANSCOBALAMIN II DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Prolidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Leukocyte-Adhesion Deficiency Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte-Adhesion Deficiency Syndrome from the curated CTD Gene-Disease Associations dataset.

Dihydropyrimidinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Deficiency Diseases Gene Set

From CTD Gene-Disease Associations

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

BISPHOSPHOGLYCERATE MUTASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BISPHOSPHOGLYCERATE MUTASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Vitamin E Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin E Deficiency from the curated CTD Gene-Disease Associations dataset.

PROTHROMBIN DEFICIENCY, CONGENITAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Infantile from the curated CTD Gene-Disease Associations dataset.

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency from the curated CTD Gene-Disease Associations dataset.

CD59 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD59 Deficiency from the curated CTD Gene-Disease Associations dataset.

Myeloperoxidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylmalonyl-CoA Epimerase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonyl-CoA Epimerase Deficiency from the curated CTD Gene-Disease Associations dataset.

Mevalonate Kinase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mevalonate Kinase Deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Factor I Deficiency from the curated CTD Gene-Disease Associations dataset.

Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta-Hydroxyisobutyryl CoA Deacylase Deficiency from the curated CTD Gene-Disease Associations dataset.

Cytochrome-c Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cytochrome-c Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Hyaluronidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

3-methylcrotonyl CoA carboxylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Multiple Sulfatase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multiple Sulfatase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Lysosomal beta-mannosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lysosomal beta-mannosidase deficiency from the curated CTD Gene-Disease Associations dataset.

Medium chain acyl CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Medium chain acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Familial apoceruloplasmin deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial apoceruloplasmin deficiency from the curated CTD Gene-Disease Associations dataset.

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.

Glutamine deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutamine deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Sulfite oxidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sulfite oxidase deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Kinase Deficiency of Red Cells Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Kinase Deficiency of Red Cells from the curated CTD Gene-Disease Associations dataset.

Factor VII Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor VII Deficiency from the curated CTD Gene-Disease Associations dataset.

MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

IRAK4 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease IRAK4 Deficiency from the curated CTD Gene-Disease Associations dataset.

Butyrylcholinesterase deficiency Gene Set

From CTD Gene-Disease Associations

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

Short chain Acyl CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Short chain Acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma aminobutyric acid transaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma aminobutyric acid transaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Carboxylase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Carboxylase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Complement Component 6 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 6 Deficiency from the curated CTD Gene-Disease Associations dataset.

Glutamate formiminotransferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutamate formiminotransferase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XII Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XII Deficiency from the curated CTD Gene-Disease Associations dataset.

Aromatase deficiency Gene Set

From CTD Gene-Disease Associations

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

Urocanase deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoserine Aminotransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoserine Aminotransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia, hypohidrotic, with immune deficiency from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Glucosephosphate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucosephosphate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial complex I deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial complex I deficiency from the curated CTD Gene-Disease Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Follicle-stimulating hormone deficiency, isolated from the curated CTD Gene-Disease Associations dataset.

Split-hand/foot malformation with long bone deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-hand/foot malformation with long bone deficiency from the curated CTD Gene-Disease Associations dataset.

Immunologic Deficiency Syndromes Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunologic Deficiency Syndromes from the curated CTD Gene-Disease Associations dataset.

protein s deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease protein s deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

systemic primary carnitine deficiency disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease systemic primary carnitine deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

purine nucleoside phosphorylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease purine nucleoside phosphorylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

alpha 1-antitrypsin deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease alpha 1-antitrypsin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

holocarboxylase synthetase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease holocarboxylase synthetase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

gamma chain deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease gamma chain deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

pyruvate decarboxylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease pyruvate decarboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

serine deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease serine deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

cerebral creatine deficiency syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease cerebral creatine deficiency syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

complement deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease complement deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

agat deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease agat deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

prothrombin deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease prothrombin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

complement factor i deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease complement factor i deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

glucosephosphate dehydrogenase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease glucosephosphate dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

protein c deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease protein c deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

dihydropyrimidine dehydrogenase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease dihydropyrimidine dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

biotinidase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease biotinidase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

beta-ketothiolase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease beta-ketothiolase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

ornithine carbamoyltransferase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease ornithine carbamoyltransferase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

factor v deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease factor v deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

ornithine translocase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease ornithine translocase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

cd40 ligand deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease cd40 ligand deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

b cell deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease b cell deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

3-methylcrotonyl-coa carboxylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease 3-methylcrotonyl-coa carboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

phgdh deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease phgdh deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

succinic semialdehyde dehydrogenase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease succinic semialdehyde dehydrogenase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

adenosine deaminase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease adenosine deaminase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

antithrombin iii deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease antithrombin iii deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

cytochrome-c oxidase deficiency disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease cytochrome-c oxidase deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

familial lipoprotein lipase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease familial lipoprotein lipase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

multiple carboxylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease multiple carboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

iron deficiency anemia Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease iron deficiency anemia in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

nutritional deficiency disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease nutritional deficiency disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

choline deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease choline deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

mhc class ii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease mhc class ii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

t lymphocyte deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease t lymphocyte deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

leukocyte-adhesion deficiency syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease leukocyte-adhesion deficiency syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

familial lipoprotein lipase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease familial lipoprotein lipase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

complement deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease complement deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

urethral intrinsic sphincter deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease urethral intrinsic sphincter deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

congenital intrinsic factor deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease congenital intrinsic factor deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

folic acid deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease folic acid deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

fructose-1,6-bisphosphatase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease fructose-1,6-bisphosphatase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

coenzyme q10 deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease coenzyme q10 deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pyruvate decarboxylase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease pyruvate decarboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

psat deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease psat deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

carbamoyl phosphate synthetase i deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease carbamoyl phosphate synthetase i deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

leukocyte adhesion deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease leukocyte adhesion deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

adenosine deaminase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease adenosine deaminase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

antithrombin iii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease antithrombin iii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

factor xiii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease factor xiii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

b cell linker protein deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease b cell linker protein deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cd3delta deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease cd3delta deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

iron deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease iron deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

protein s deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease protein s deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

gamma chain deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease gamma chain deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

intestinal disaccharidase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease intestinal disaccharidase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

artemis deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease artemis deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cd40 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease cd40 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

agat deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease agat deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

dna ligase iv deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease dna ligase iv deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cd45 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease cd45 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

factor viii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease factor viii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cd3zeta deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease cd3zeta deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

factor vii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease factor vii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

selective igg deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease selective igg deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

factor xii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease factor xii deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cd40 ligand deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease cd40 ligand deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

serine deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease serine deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

interleukin-7 receptor alpha deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease interleukin-7 receptor alpha deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cd3gamma deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease cd3gamma deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

vitamin b12 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease vitamin b12 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

multiple carboxylase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease multiple carboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

nutritional deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease nutritional deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cerebral creatine deficiency syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease cerebral creatine deficiency syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

factor xi deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease factor xi deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

coronin-1a deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease coronin-1a deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

3-methylcrotonyl-coa carboxylase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease 3-methylcrotonyl-coa carboxylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

factor x deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease factor x deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

systemic primary carnitine deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease systemic primary carnitine deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

purine nucleoside phosphorylase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease purine nucleoside phosphorylase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

c1 inhibitor deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease c1 inhibitor deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

prothrombin deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease prothrombin deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

holocarboxylase synthetase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease holocarboxylase synthetase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

selective iga deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease selective iga deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pyridoxine deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease pyridoxine deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

biotinidase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease biotinidase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

ornithine translocase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease ornithine translocase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

rh deficiency syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease rh deficiency syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

beta-ketothiolase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease beta-ketothiolase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

platelet storage pool deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease platelet storage pool deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

succinic semialdehyde dehydrogenase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease succinic semialdehyde dehydrogenase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cd3epsilon deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease cd3epsilon deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

mhc class i deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease mhc class i deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

recombinase activating gene 1 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease recombinase activating gene 1 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

t cell deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease t cell deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

alpha 1-antitrypsin deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease alpha 1-antitrypsin deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

psph deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease psph deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

complement factor i deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease complement factor i deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

glucosephosphate dehydrogenase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease glucosephosphate dehydrogenase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

protein c deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease protein c deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

dihydropyrimidine dehydrogenase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease dihydropyrimidine dehydrogenase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

complement component 5 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease complement component 5 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

ornithine carbamoyltransferase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease ornithine carbamoyltransferase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

factor v deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease factor v deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

b cell deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease b cell deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

protein-deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease protein-deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

c3 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease c3 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

galactokinase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease galactokinase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

vitamin k deficiency hemorrhagic disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease vitamin k deficiency hemorrhagic disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

ahg deficiency disease; hemophilia a; hemorrhage; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; hemophilia a; hemorrhage; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; lung neoplasms; neoplasm of lung ; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; lung neoplasms; neoplasm of lung ; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glucosephosphate dehydrogenase deficiency; hyperbilirubinemia, neonatal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glucosephosphate dehydrogenase deficiency; hyperbilirubinemia, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenoma; adenomatous polyps; colonic polyps; colorectal neoplasms; hyperplasia; magnesium deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenoma; adenomatous polyps; colonic polyps; colorectal neoplasms; hyperplasia; magnesium deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

g6pd deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease g6pd deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

iga deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease iga deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thromboembolism; venous thrombosis; vitamin b deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thromboembolism; venous thrombosis; vitamin b deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha-thalassemia; anemia; glucosephosphate dehydrogenase deficiency; malaria, falciparum; sickle cell trait Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha-thalassemia; anemia; glucosephosphate dehydrogenase deficiency; malaria, falciparum; sickle cell trait in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; bronchitis, chronic; chronic bronchitis ; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; bronchitis, chronic; chronic bronchitis ; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

free protein s (type iia) deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease free protein s (type iia) deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; wegener granulomatosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; wegener granulomatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; aortic stenosis, supravalvular; dislocations; scoliosis; williams syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; aortic stenosis, supravalvular; dislocations; scoliosis; williams syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; fibrosis; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; fibrosis; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

tetrahydrobiopterin (bh4) deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease tetrahydrobiopterin (bh4) deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenoma; colorectal neoplasms; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenoma; colorectal neoplasms; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

deficiency of coagulation factor v Gene Set

From GAD Gene-Disease Associations

genes associated with the disease deficiency of coagulation factor v in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase deficiency; hemolysis; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

end-plate acetylcholinesterase deficiency (type ic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease end-plate acetylcholinesterase deficiency (type ic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

protein s deficiency; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cytochrome-c oxidase deficiency; leigh disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cytochrome-c oxidase deficiency; leigh disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertrophic cardiomyopathy and cytochrome c oxidase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertrophic cardiomyopathy and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; fetal growth retardation; intrauterine growth retardation; vitamin d deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal growth retardation; intrauterine growth retardation; vitamin d deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leigh syndrome and cytochrome c oxidase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leigh syndrome and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations 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.

airway obstruction; alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease airway obstruction; alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

medium-chain acyl-coa dehydrogenase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease medium-chain acyl-coa dehydrogenase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha(1) antitrypsin deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha(1) antitrypsin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive; pulmonary emphysema Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alpha 1-antitrypsin deficiency; pulmonary disease, chronic obstructive; pulmonary emphysema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

disorder of muscle, unspec; lipidoses; lipoidosis; multiple acyl coenzyme a dehydrogenase deficiency; muscular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease disorder of muscle, unspec; lipidoses; lipoidosis; multiple acyl coenzyme a dehydrogenase deficiency; muscular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ornithine carbamoyltransferase deficiency disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ornithine carbamoyltransferase deficiency disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

c2-deficiency gene Gene Set

From GAD Gene-Disease Associations

genes associated with the disease c2-deficiency gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

medium-chain acyl-coa dehydrogenase (mcad) deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease medium-chain acyl-coa dehydrogenase (mcad) deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eclampsia; factor v deficiency; pre-eclampsia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eclampsia; factor v deficiency; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

f12 plasma deficiency, moderate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease f12 plasma deficiency, moderate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ahg deficiency disease; chromosome inversion; hemophilia a; hemorrhage; inversion, chromosome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; chromosome inversion; hemophilia a; hemorrhage; inversion, chromosome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

magnesium deficiency; wasting syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease magnesium deficiency; wasting syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

phenylalanine hydroxylase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease phenylalanine hydroxylase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

methylenetetrahydrofolate reductase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease methylenetetrahydrofolate reductase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes, gestational; vitamin d deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes, gestational; vitamin d deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

isolated gh deficiency (ighd) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease isolated gh deficiency (ighd) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sickle cell anemia; g6pd deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sickle cell anemia; g6pd deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acid lipase deficiency and cholesterol ester storage disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acid lipase deficiency and cholesterol ester storage disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cobalamin deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cobalamin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

phenylalanine hydroxylase (pah) deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease phenylalanine hydroxylase (pah) deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

deficiency diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease deficiency diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

celiac disease; iga deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease celiac disease; iga deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; folic acid deficiency; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; folic acid deficiency; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.