| Name |
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CD40 GeneCD40 molecule, TNF receptor superfamily member 5 This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014] |
CD40LG GeneCD40 ligand The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008] |
LOC101929026 Genezinc-activated ligand-gated ion channel-like |
CCL3P1 Genechemokine (C-C motif) ligand 3 pseudogene 1 |
LRIF1 Geneligand dependent nuclear receptor interacting factor 1 Predicted to enable nuclear retinoic acid receptor binding activity. Involved in dosage compensation by inactivation of X chromosome. Located in centriolar satellite; chromosome, telomeric region; and nuclear lumen. Implicated in facioscapulohumeral muscular dystrophy 3. [provided by Alliance of Genome Resources, Mar 2025] |
CCL4L1 Genechemokine (C-C motif) ligand 4-like 1 This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] |
CCL4L2 Genechemokine (C-C motif) ligand 4-like 2 This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. This gene copy contains a non-consensus splice acceptor site at the 3' terminal exon found in other highly similar gene copies, and it thus uses other alternative splice sites for the 3' terminal exon, resulting in multiple transcript variants. [provided by RefSeq, Apr 2014] |
PDCD1LG2 Geneprogrammed cell death 1 ligand 2 Involved in negative regulation of activated T cell proliferation; negative regulation of interleukin-10 production; and negative regulation of type II interferon production. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. Biomarker of pulmonary tuberculosis. [provided by Alliance of Genome Resources, Mar 2025] |
LOC644909 Geneligand of numb-protein X 1, E3 ubiquitin protein ligase pseudogene |
CAMLG Genecalcium modulating ligand The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008] |
P2RX1 Genepurinergic receptor P2X, ligand gated ion channel, 1 The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013] |
P2RX3 Genepurinergic receptor P2X, ligand gated ion channel, 3 This gene encodes a member of the P2X purinergic receptor (purinoceptor) gene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, ligand-gated ion channels that open in response to the binding of extracellular adenosine 5'-triphosphate (ATP). The encoded protein is a subunit of the trimeric P2X3 receptor ion channel which is expressed by sensory or autonomic neurons. A deficiency of the orthologous protein in mice is associated with reduced pain-related behavior and urinary bladder hyporeflexia. [provided by RefSeq, Aug 2017] |
P2RX2 Genepurinergic receptor P2X, ligand gated ion channel, 2 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013] |
P2RX5 Genepurinergic receptor P2X, ligand gated ion channel, 5 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011] |
P2RX4 Genepurinergic receptor P2X, ligand gated ion channel, 4 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012] |
P2RX6 Genepurinergic receptor P2X, ligand gated ion channel, 6 The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009] |
CCL11 Genechemokine (C-C motif) ligand 11 This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil-specific chemokine is thought to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections. [provided by RefSeq, Sep 2014] |
CCL13 Genechemokine (C-C motif) ligand 13 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during artherosclerosis. [provided by RefSeq, Sep 2014] |
CCL14 Genechemokine (C-C motif) ligand 14 This gene, chemokine (C-C motif) ligand 14, is one of several CC cytokine genes clustered on 17q11.2. The CC cytokines are secreted proteins characterized by two adjacent cysteines. The cytokine encoded by this gene induces changes in intracellular calcium concentration and enzyme release in monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Read-through transcripts are also expressed that include exons from the upstream cytokine gene, chemokine (C-C motif) ligand 15, and are represented as GeneID: 348249. [provided by RefSeq, Dec 2009] |
CCL15 Genechemokine (C-C motif) ligand 15 This gene is located in a cluster of similar genes in the same region of chromosome 17. These genes encode CC cytokines, which are secreted proteins characterized by two adjacent cysteines. The product of this gene is chemotactic for T cells and monocytes, and acts through C-C chemokine receptor type 1 (CCR1). The proprotein is further processed into numerous smaller functional peptides. Naturally-occurring readthrough transcripts occur from this gene into the downstream gene, CCL14 (chemokine (C-C motif) ligand 14). [provided by RefSeq, Jan 2013] |
CCL16 Genechemokine (C-C motif) ligand 16 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for lymphocytes and monocytes but not for neutrophils. This cytokine also shows a potent myelosuppressive activity and suppresses proliferation of myeloid progenitor cells. The expression of this gene is upregulated by IL-10. [provided by RefSeq, Jul 2008] |
CCL17 Genechemokine (C-C motif) ligand 17 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for T lymphocytes, but not monocytes or granulocytes. The product of this gene binds to chemokine receptors CCR4 and CCR8. This chemokine plays important roles in T cell development in thymus as well as in trafficking and activation of mature T cells. [provided by RefSeq, Sep 2014] |
CCL18 Genechemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses. [provided by RefSeq, Sep 2014] |
CCL19 Genechemokine (C-C motif) ligand 19 This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene may play a role in normal lymphocyte recirculation and homing. It also plays an important role in trafficking of T cells in thymus, and in T cell and B cell migration to secondary lymphoid organs. It specifically binds to chemokine receptor CCR7. [provided by RefSeq, Sep 2014] |
APELA Geneapelin receptor early endogenous ligand This gene encodes a peptide hormone that binds to the Apelin receptor. The encoded protein is required for heart development in zebrafish and has been shown to maintain self-renewal of human embryonic stem cells through activation of the PI3K/AKT pathway. Experiments in human and mouse cell lines point to additional roles for the encoded protein in angiogenesis and regulation of vascular tone. [provided by RefSeq, Jul 2016] |
P2RX6P Genepurinergic receptor P2X, ligand gated ion channel, 6 pseudogene |
CCL28 Genechemokine (C-C motif) ligand 28 This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for resting CD4 or CD8 T cells and eosinophils. The product of this gene binds to chemokine receptors CCR3 and CCR10. This chemokine may play a role in the physiology of extracutaneous epithelial tissues, including diverse mucosal organs. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] |
CCL21 Genechemokine (C-C motif) ligand 21 This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). [provided by RefSeq, Sep 2014] |
CCL20 Genechemokine (C-C motif) ligand 20 This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene displays chemotactic activity for lymphocytes and can repress proliferation of myeloid progenitors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] |
CCL23 Genechemokine (C-C motif) ligand 23 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity on resting T lymphocytes and monocytes, lower activity on neutrophils and no activity on activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. In addition, the product of this gene is a potent agonist of the chemokine (C-C motif) receptor 1. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] |
CCL22 Genechemokine (C-C motif) ligand 22 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq, Sep 2014] |
CCL25 Genechemokine (C-C motif) ligand 25 This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] |
CCL24 Genechemokine (C-C motif) ligand 24 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. This protein also has antimicrobial activity, displaying an antibacterial effect on S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa. Finally, the protein is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. [provided by RefSeq, Jul 2020] |
CCL27 Genechemokine (C-C motif) ligand 27 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene is chemotactic for skin-associated memory T lymphocytes. This cytokine may also play a role in mediating homing of lymphocytes to cutaneous sites. It specifically binds to chemokine receptor 10 (CCR10). Studies of a similar murine protein indicate that these protein-receptor interactions have a pivotal role in T cell-mediated skin inflammation. [provided by RefSeq, Sep 2014] |
CCL26 Genechemokine (C-C motif) ligand 26 This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. This protein also has antimicrobial activity, displaying an antibacterial effect on S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. [provided by RefSeq, Jul 2020] |
NCR3LG1 Genenatural killer cell cytotoxicity receptor 3 ligand 1 B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011] |
P2RX7 Genepurinergic receptor P2X, ligand gated ion channel, 7 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] |
LAKLG Genelymphokine-activated killer cell ligand |
CCL3L1 Genechemokine (C-C motif) ligand 3-like 1 This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility. This record represents one of two copies that are present on the ALT_REF_LOCI_2 alternate haplotype of the GRCh38 human reference genome assembly. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] |
TNFSF9 Genetumor necrosis factor (ligand) superfamily, member 9 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This transmembrane cytokine is a bidirectional signal transducer that acts as a ligand for TNFRSF9/4-1BB, which is a costimulatory receptor molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process and in the generation of cytotoxic T cells. The receptor TNFRSF9/4-1BB is absent from resting T lymphocytes but rapidly expressed upon antigenic stimulation. The ligand encoded by this gene, TNFSF9/4-1BBL, has been shown to reactivate anergic T lymphocytes in addition to promoting T lymphocyte proliferation. This cytokine has also been shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is expressed in carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction.[provided by RefSeq, Oct 2008] |
TNFSF4 Genetumor necrosis factor (ligand) superfamily, member 4 This gene encodes a cytokine of the tumor necrosis factor (TNF) ligand family. The encoded protein functions in T cell antigen-presenting cell (APC) interactions and mediates adhesion of activated T cells to endothelial cells. Polymorphisms in this gene have been associated with Sjogren's syndrome and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] |
LOC102723996 GeneICOS ligand |
LCOR Geneligand dependent nuclear receptor corepressor LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008] |
CXCL1 Genechemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. Aberrant expression of this protein is associated with the growth and progression of certain tumors. A naturally occurring processed form of this protein has increased chemotactic activity. Alternate splicing results in coding and non-coding variants of this gene. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Sep 2014] |
CXCL3 Genechemokine (C-X-C motif) ligand 3 This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. [provided by RefSeq, Sep 2014] |
CXCL2 Genechemokine (C-X-C motif) ligand 2 This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CXC subfamily, is expressed at sites of inflammation and may suppress hematopoietic progenitor cell proliferation. [provided by RefSeq, Sep 2014] |
CXCL5 Genechemokine (C-X-C motif) ligand 5 This gene encodes a protein that is a member of the CXC subfamily of chemokines. Chemokines, which recruit and activate leukocytes, are classified by function (inflammatory or homeostatic) or by structure. This protein is proposed to bind the G-protein coupled receptor chemokine (C-X-C motif) receptor 2 to recruit neutrophils, to promote angiogenesis and to remodel connective tissues. This protein is thought to play a role in cancer cell proliferation, migration, and invasion. [provided by RefSeq, May 2013] |
CXCL6 Genechemokine (C-X-C motif) ligand 6 The protein encoded by this gene is a member CXC chemokine family. The encoded protein is a chemotactic for neutrophil granulocytes and has antibacterial action against gram-negative and gram-positive bacteria. This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, Jun 2020] |
CXCL9 Genechemokine (C-X-C motif) ligand 9 This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded is thought to be involved in T cell trafficking. The encoded protein binds to C-X-C motif chemokine 3 and is a chemoattractant for lymphocytes but not for neutrophils. [provided by RefSeq, Aug 2020] |
CXCL8 Genechemokine (C-X-C motif) ligand 8 The protein encoded by this gene is a member of the CXC chemokine family and is a major mediator of the inflammatory response. The encoded protein is commonly referred to as interleukin-8 (IL-8). IL-8 is secreted by mononuclear macrophages, neutrophils, eosinophils, T lymphocytes, epithelial cells, and fibroblasts. It functions as a chemotactic factor by guiding the neutrophils to the site of infection. Bacterial and viral products rapidly induce IL-8 expression. IL-8 also participates with other cytokines in the proinflammatory signaling cascade and plays a role in systemic inflammatory response syndrome (SIRS). This gene is believed to play a role in the pathogenesis of the lower respiratory tract infection bronchiolitis, a common respiratory tract disease caused by the respiratory syncytial virus (RSV). The overproduction of this proinflammatory protein is thought to cause the lung inflammation associated with csytic fibrosis. This proinflammatory protein is also suspected of playing a role in coronary artery disease and endothelial dysfunction. This protein is also secreted by tumor cells and promotes tumor migration, invasion, angiogenesis and metastasis. This chemokine is also a potent angiogenic factor. The binding of IL-8 to one of its receptors (IL-8RB/CXCR2) increases the permeability of blood vessels and increasing levels of IL-8 are positively correlated with increased severity of multiple disease outcomes (eg, sepsis). This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, May 2020] |
WLS Genewntless Wnt ligand secretion mediator Enables Wnt-protein binding activity and identical protein binding activity. Involved in positive regulation of cell communication and protein transport. Located in several cellular components, including Golgi apparatus; early endosome; and endoplasmic reticulum membrane. Implicated in Zaki syndrome. [provided by Alliance of Genome Resources, Mar 2025] |
TNFSF13 Genetumor necrosis factor (ligand) superfamily, member 13 The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010] |
TNFSF12 Genetumor necrosis factor (ligand) superfamily, member 12 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010] |
TNFSF11 Genetumor necrosis factor (ligand) superfamily, member 11 This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008] |
TNFSF10 Genetumor necrosis factor (ligand) superfamily, member 10 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] |
TNFSF18 Genetumor necrosis factor (ligand) superfamily, member 18 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF18/AITR/GITR. It has been shown to modulate T lymphocyte survival in peripheral tissues. This cytokine is also found to be expressed in endothelial cells, and is thought to be important for interaction between T lymphocytes and endothelial cells. [provided by RefSeq, Jul 2008] |
CCL3L3 Genechemokine (C-C motif) ligand 3-like 3 This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility.[provided by RefSeq, Apr 2014] |
XCL2 Genechemokine (C motif) ligand 2 Predicted to enable CCR chemokine receptor binding activity and chemokine activity. Predicted to be involved in several processes, including antimicrobial humoral immune response mediated by antimicrobial peptide; chemokine-mediated signaling pathway; and eosinophil chemotaxis. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
XCL1 Genechemokine (C motif) ligand 1 This antimicrobial gene encodes a member of the chemokine superfamily. Chemokines function in inflammatory and immunological responses, inducing leukocyte migration and activation. The encoded protein is a member of the C-chemokine subfamily, retaining only two of four cysteines conserved in other chemokines, and is thought to be specifically chemotactic for T cells. This gene and a closely related family member are located on the long arm of chromosome 1. [provided by RefSeq, Sep 2014] |
LCORL Geneligand dependent nuclear receptor corepressor-like This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
CCL2 Genechemokine (C-C motif) ligand 2 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. Elevated expression of the encoded protein is associated with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection. [provided by RefSeq, Aug 2020] |
CCL3 Genechemokine (C-C motif) ligand 3 This locus represents a small inducible cytokine. The encoded protein, also known as macrophage inflammatory protein 1 alpha, plays a role in inflammatory responses through binding to the receptors CCR1, CCR4 and CCR5. Polymorphisms at this locus may be associated with both resistance and susceptibility to infection by human immunodeficiency virus type 1.[provided by RefSeq, Sep 2010] |
CCL1 Genechemokine (C-C motif) ligand 1 This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Sep 2014] |
CCL7 Genechemokine (C-C motif) ligand 7 This gene encodes monocyte chemotactic protein 3, a secreted chemokine which attracts macrophages during inflammation and metastasis. It is a member of the C-C subfamily of chemokines which are characterized by having two adjacent cysteine residues. The protein is an in vivo substrate of matrix metalloproteinase 2, an enzyme which degrades components of the extracellular matrix. This gene is part of a cluster of C-C chemokine family members on chromosome 17q. [provided by RefSeq, Jul 2008] |
CCL4 Genechemokine (C-C motif) ligand 4 The protein encoded by this gene is a mitogen-inducible monokine and is one of the major HIV-suppressive factors produced by CD8+ T-cells. The encoded protein is secreted and has chemokinetic and inflammatory functions. [provided by RefSeq, Dec 2012] |
CCL5 Genechemokine (C-C motif) ligand 5 This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor chemokine (C-C motif) receptor 5 (CCR5), and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013] |
CCL8 Genechemokine (C-C motif) ligand 8 This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils. By recruiting leukocytes to sites of inflammation this cytokine may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. [provided by RefSeq, Sep 2014] |
TNFSF15 Genetumor necrosis factor (ligand) superfamily, member 15 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is abundantly expressed in endothelial cells, but is not expressed in either B or T cells. The expression of this protein is inducible by TNF and IL-1 alpha. This cytokine is a ligand for receptor TNFRSF25 and decoy receptor TNFRSF21/DR6. It can activate NF-kappaB and MAP kinases, and acts as an autocrine factor to induce apoptosis in endothelial cells. This cytokine is also found to inhibit endothelial cell proliferation, and thus may function as an angiogenesis inhibitor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] |
TNFSF14 Genetumor necrosis factor (ligand) superfamily, member 14 The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] |
LNX2 Geneligand of numb-protein X 2 Predicted to enable ubiquitin-protein transferase activity. Predicted to act upstream of or within neural precursor cell proliferation and neuron differentiation. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LNX1 Geneligand of numb-protein X 1, E3 ubiquitin protein ligase This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008] |
CX3CL1 Genechemokine (C-X3-C motif) ligand 1 This gene belongs to the CX3C subgroup of chemokines, characterized by the number of amino acids located between the conserved cysteine residues. This is the only member of the CX3C subgroup, which contains three amino acids between cysteine residues, resulting in a Cys-X-X-X-Cys configuration. The encoded protein contains an extended mucin-like stalk with a chemokine domain on top, and exists in both a membrane-anchored form where it acts as a binding molecule, or, in soluble form, as a chemotactic cytokine. The mature form of this protein can be cleaved at the cell surface, yielding different soluble forms that can interact with the G-protein coupled receptor, C-X3-C motif chemokine receptor 1 gene product. This gene plays a role in a wide range of diseases, including cancer, vasculitis, neuropathies, atherosclerosis, inflammatory diseases, and in human immunodeficiency virus infections. [provided by RefSeq, Sep 2017] |
PPBP Genepro-platelet basic protein (chemokine (C-X-C motif) ligand 7) The protein encoded by this gene is a platelet-derived growth factor that belongs to the CXC chemokine family. This growth factor is a potent chemoattractant and activator of neutrophils. It has been shown to stimulate various cellular processes including DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by synovial cells. The protein also is an antimicrobial protein with bactericidal and antifungal activity. [provided by RefSeq, Nov 2014] |
KITLG GeneKIT ligand This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
SELPLG Geneselectin P ligand This gene encodes a glycoprotein that functions as a high affinity counter-receptor for the cell adhesion molecules P-, E- and L- selectin expressed on myeloid cells and stimulated T lymphocytes. As such, this protein plays a critical role in leukocyte trafficking during inflammation by tethering of leukocytes to activated platelets or endothelia expressing selectins. This protein requires two post-translational modifications, tyrosine sulfation and the addition of the sialyl Lewis x tetrasaccharide (sLex) to its O-linked glycans, for its high-affinity binding activity. Aberrant expression of this gene and polymorphisms in this gene are associated with defects in the innate and adaptive immune response. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011] |
ZACN Genezinc activated ligand-gated ion channel LGICZ1 is a zinc-activated ligand-gated ion channel that defines a new subgroup of the cysteine-loop superfamily of ligand-gated ion channels (Davies et al., 2003 [PubMed 12381728]).[supplied by OMIM, Mar 2008] |
TNFSF13B Genetumor necrosis factor (ligand) superfamily, member 13b The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011] |
ICOSLG Geneinducible T-cell co-stimulator ligand Enables identical protein binding activity and receptor ligand activity. Involved in T follicular helper cell differentiation. Located in intracellular membrane-bounded organelle. Is active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
CXCL1P Genechemokine (C-X-C motif) ligand 1 pseudogene |
CXCL11 Genechemokine (C-X-C motif) ligand 11 Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC. This antimicrobial gene is a CXC member of the chemokine superfamily. Its encoded protein induces a chemotactic response in activated T-cells and is the dominant ligand for CXC receptor-3. The gene encoding this protein contains 4 exons and at least three polyadenylation signals which might reflect cell-specific regulation of expression. IFN-gamma is a potent inducer of transcription of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014] |
CXCL12 Genechemokine (C-X-C motif) ligand 12 This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014] |
CXCL14 Genechemokine (C-X-C motif) ligand 14 This antimicrobial gene belongs to the cytokine gene family which encode secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC (Cys-X-Cys) subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes but not for lymphocytes, dendritic cells, neutrophils or macrophages. It has been implicated that this cytokine is involved in the homeostasis of monocyte-derived macrophages rather than in inflammation. [provided by RefSeq, Sep 2014] |
CXCL17 Genechemokine (C-X-C motif) ligand 17 The protein encoded by this gene is a mucosal chemokine that attracts immature dendritic cells and blood monocytes to the lungs. The encoded protein also promotes tumorigenesis through an angiogenic activity. Finally, this protein exhibits strong antimicrobial activity against E. coli, S. aureus, Salmonella, P. aeruginosa, and C. albicans. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015] |
CXCL16 Genechemokine (C-X-C motif) ligand 16 Enables chemokine activity. Involved in several processes, including positive regulation of cell growth; response to tumor necrosis factor; and response to type II interferon. Located in extracellular space. Biomarker of COVID-19 and systemic scleroderma. [provided by Alliance of Genome Resources, Mar 2025] |
FLT3LG Genefms-related tyrosine kinase 3 ligand Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011] |
FASLG GeneFas ligand (TNF superfamily, member 6) This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014] |
LOC100996637 GeneP-selectin glycoprotein ligand 1-like |
TNFSF8 Genetumor necrosis factor (ligand) superfamily, member 8 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |
CXCL10 Genechemokine (C-X-C motif) ligand 10 This antimicrobial gene encodes a chemokine of the CXC subfamily and ligand for the receptor CXCR3. Binding of this protein to CXCR3 results in pleiotropic effects, including stimulation of monocytes, natural killer and T-cell migration, and modulation of adhesion molecule expression. This gene may also be a key regulator of the 'cytokine storm' immune response to SARS-CoV-2 infection. [provided by RefSeq, Sep 2020] |
CXCL13 Genechemokine (C-X-C motif) ligand 13 B lymphocyte chemoattractant, independently cloned and named Angie, is an antimicrobial peptide and CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer's patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt's lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles. [provided by RefSeq, Oct 2014] |
ALKAL1 GeneALK and LTK ligand 1 Enables protein tyrosine kinase activator activity and signaling receptor binding activity. Involved in cell surface receptor protein tyrosine kinase signaling pathway; positive regulation of MAPK cascade; and positive regulation of neuron projection development. Is active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
ALKAL2 GeneALK and LTK ligand 2 Enables protein tyrosine kinase activator activity and signaling receptor binding activity. Involved in cell surface receptor protein tyrosine kinase signaling pathway; positive regulation of MAPK cascade; and positive regulation of neuron projection development. Is active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
GPR15LG GeneG protein-coupled receptor 15 ligand Enables chemokine activity. Involved in several processes, including defense response to other organism; mast cell degranulation; and negative regulation of cell cycle G1/S phase transition. Located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
LIAT1 Geneligand of ATE1 Predicted to enable molecular condensate scaffold activity. Predicted to be involved in membraneless organelle assembly and protein arginylation. Predicted to be located in cytoplasm and nucleus. Predicted to be active in nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
cd40 ligand deficiency Gene SetFrom 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. |
cd40 ligand deficiency Gene SetFrom 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. |
Cd40 Ligand Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cd40 Ligand Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
CD40 ligand deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease CD40 ligand deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multicomponent signaling complex, anti-CD40 stimulated,(Birc2, Birc3, Cd40, Ikbkg, Map3k1, Traf2, Ube2n) Gene Setproteins in the Multicomponent signaling complex, anti-CD40 stimulated,(Birc2, Birc3, Cd40, Ikbkg, Map3k1, Traf2, Ube2n) protein complex from the CORUM Protein Complexes dataset. |
Multicomponent signaling complex, anti-CD40 stimulated (Birc2, Birc3, Cd40, Ikbkg, Map2k4, Map2k7, Map3k1, Traf2, Ube2n) Gene Setproteins in the Multicomponent signaling complex, anti-CD40 stimulated (Birc2, Birc3, Cd40, Ikbkg, Map2k4, Map2k7, Map3k1, Traf2, Ube2n) protein complex from the CORUM Protein Complexes dataset. |
Membrane-associated multicomponent signaling complex, anti-CD40 stimulated (Cd40, Ikbkg, Map3k1, Traf2, Ube2n) Gene Setproteins in the Membrane-associated multicomponent signaling complex, anti-CD40 stimulated (Cd40, Ikbkg, Map3k1, Traf2, Ube2n) protein complex from the CORUM Protein Complexes dataset. |
CD40 Ligand Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait CD40 Ligand in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
cd40 ligand Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cd40 ligand in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
CD40 ligand Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the CD40 ligand protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
CD40 ligand levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the CD40 ligand levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
CD40 LIGAND Gene Setinteracting proteins for the CD40 LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
RECOMBINANT CD40-LIGAND Gene Setinteracting proteins for the RECOMBINANT CD40-LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
ADENOVIRUS 5-CD40 LIGAND Gene Setinteracting proteins for the ADENOVIRUS 5-CD40 LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
cd40 deficiency Gene SetFrom 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. |
factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene SetFrom 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 SetFrom 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 SetFrom 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. |
cd40 receptor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the cd40 receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
cd40 receptor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the cd40 receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
Cytosolic multicomponent signaling complex, anti-CD40 stimulated, (Ikbkg, Map3k1, Traf2, Ube2n) Gene Setproteins in the Cytosolic multicomponent signaling complex, anti-CD40 stimulated, (Ikbkg, Map3k1, Traf2, Ube2n) protein complex from the CORUM Protein Complexes dataset. |
hyper-igm syndrome can form oligomers and trigger cd40-mediated signals Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-igm syndrome can form oligomers and trigger cd40-mediated signals in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cd40 Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term cd40 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
negative regulation of cd40 signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of cd40 signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of cd40 signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of cd40 signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of cd40 signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of cd40 signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
cd40 signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cd40 signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
cd40 receptor complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the cd40 receptor complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
cd40 receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the cd40 receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
CD40 Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for CD40 from the Pathway Commons Protein-Protein Interactions dataset. |
CD40/CD40L signaling Gene SetFrom PID Pathways proteins participating in the CD40/CD40L signaling pathway from the PID Pathways dataset. |
CD40 signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the CD40 signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of CD40 signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of CD40 signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of CD40 signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of CD40 signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of CD40 signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of CD40 signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
CD40 receptor complex Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the CD40 receptor complex cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
CD40 receptor binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the CD40 receptor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
CD40 Gene SetFrom LINCS L1000 CMAP CRISPR Knockout Consensus Signatures genes differentially expressed following the CD40 gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. |
CD40 signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the CD40 signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of CD40 signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of CD40 signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of CD40 signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of CD40 signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of CD40 signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of CD40 signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
CD40 receptor complex Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the CD40 receptor complex cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
CD40 receptor binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the CD40 receptor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
293-CD40 cell Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue 293-CD40 cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
CD40 receptor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the CD40 receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
CD40 receptor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the CD40 receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
ANTI-CD40 MONOCLONAL ANTIBODY CHI LOB 7/4 Gene Setinteracting proteins for the ANTI-CD40 MONOCLONAL ANTIBODY CHI LOB 7/4 drug from theDGIdb Drug Targets 2026 dataset. |
ANTI-CD40/ANTI-MESOTHELIN BISPECIFIC ANTIBODY ABBV-428 Gene Setinteracting proteins for the ANTI-CD40/ANTI-MESOTHELIN BISPECIFIC ANTIBODY ABBV-428 drug from theDGIdb Drug Targets 2026 dataset. |
CD40 Gene SetFrom CM4AI KOLF21J CRISPRi Gene Perturbation Atlas genes differentially expressed following the CD40 gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas. |
Neuraminidase deficiency with beta-galactosidase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 SetFrom 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. |
cbl mediated ligand-induced downregulation of egf receptors pathway Gene SetFrom Biocarta Pathways proteins participating in the cbl mediated ligand-induced downregulation of egf receptors pathway pathway from the Biocarta Pathways dataset. |
9S-cytosolic aryl hydrocarbon (Ah) receptor non-ligand activated complex Gene Setproteins in the 9S-cytosolic aryl hydrocarbon (Ah) receptor non-ligand activated complex protein complex from the CORUM Protein Complexes dataset. |
6S-nuclear aryl hydrocarbon (Ah) receptor ligand-activated complex Gene Setproteins in the 6S-nuclear aryl hydrocarbon (Ah) receptor ligand-activated complex protein complex from the CORUM Protein Complexes dataset. |
CBP-RARA-RXRA-DNA complex, ligand stimulated Gene Setproteins in the CBP-RARA-RXRA-DNA complex, ligand stimulated protein complex from the CORUM Protein Complexes dataset. |
ligand Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term ligand in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
chemokine (c-c motif) ligand 5 production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the chemokine (c-c motif) ligand 5 production biological process from the curated GO Biological Process Annotations 2015 dataset. |
chemokine (c-c motif) ligand 2 secretion Gene SetFrom GO Biological Process Annotations 2015 genes participating in the chemokine (c-c motif) ligand 2 secretion biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of chemokine (c-x-c motif) ligand 2 production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of chemokine (c-x-c motif) ligand 2 production biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of chemokine (c-c motif) ligand 5 production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of chemokine (c-c motif) ligand 5 production biological process from the curated GO Biological Process Annotations 2015 dataset. |
chemokine (c-c motif) ligand 21 signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the chemokine (c-c motif) ligand 21 signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of chemokine (c-x-c motif) ligand 1 production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of chemokine (c-x-c motif) ligand 1 production biological process from the curated GO Biological Process Annotations 2015 dataset. |
sequestering of extracellular ligand from receptor Gene SetFrom GO Biological Process Annotations 2015 genes participating in the sequestering of extracellular ligand from receptor biological process from the curated GO Biological Process Annotations 2015 dataset. |
extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2015 genes participating in the extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of chemokine (c-x-c motif) ligand 2 production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of chemokine (c-x-c motif) ligand 2 production biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of chemokine (c-x-c motif) ligand 1 production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of chemokine (c-x-c motif) ligand 1 production biological process from the curated GO Biological Process Annotations 2015 dataset. |
chemokine (c-c motif) ligand 19 signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the chemokine (c-c motif) ligand 19 signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of ligand-dependent nuclear receptor transcription coactivator activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of ligand-dependent nuclear receptor transcription coactivator activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of chemokine (c-x-c motif) ligand 2 production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of chemokine (c-x-c motif) ligand 2 production biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of tumor necrosis factor (ligand) superfamily member 11 production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of tumor necrosis factor (ligand) superfamily member 11 production biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of chemokine (c-c motif) ligand 5 production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of chemokine (c-c motif) ligand 5 production biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of ligand-dependent nuclear receptor transcription coactivator activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of ligand-dependent nuclear receptor transcription coactivator activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of tumor necrosis factor (ligand) superfamily member 11 production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of tumor necrosis factor (ligand) superfamily member 11 production biological process from the curated GO Biological Process Annotations 2015 dataset. |
signal transduction in absence of ligand Gene SetFrom GO Biological Process Annotations 2015 genes participating in the signal transduction in absence of ligand biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of tumor necrosis factor (ligand) superfamily member 11 production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of tumor necrosis factor (ligand) superfamily member 11 production biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of chemokine (c-c motif) ligand 5 production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of chemokine (c-c motif) ligand 5 production biological process from the curated GO Biological Process Annotations 2015 dataset. |
chemokine (c-c motif) ligand 11 production Gene SetFrom GO Biological Process Annotations 2015 genes participating in the chemokine (c-c motif) ligand 11 production biological process from the curated GO Biological Process Annotations 2015 dataset. |
patched ligand maturation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the patched ligand maturation biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of signal transduction in absence of ligand Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of signal transduction in absence of ligand biological process from the curated GO Biological Process Annotations 2015 dataset. |
inhibitory extracellular ligand-gated ion channel activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the inhibitory extracellular ligand-gated ion channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ligand-activated sequence-specific dna binding rna polymerase ii transcription factor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ligand-activated sequence-specific dna binding rna polymerase ii transcription factor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ligand-activated rna polymerase ii transcription factor binding transcription factor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ligand-activated rna polymerase ii transcription factor binding transcription factor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
chemokine (c-c motif) ligand 19 binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the chemokine (c-c motif) ligand 19 binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
extracellular ligand-gated ion channel activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the extracellular ligand-gated ion channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
intracellular ligand-gated ion channel activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the intracellular ligand-gated ion channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ligand-dependent nuclear receptor transcription coactivator activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ligand-dependent nuclear receptor transcription coactivator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
chemokine (c-c motif) ligand 5 binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the chemokine (c-c motif) ligand 5 binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ligand-gated ion channel activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ligand-gated ion channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ligand-gated channel activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ligand-gated channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ligand-dependent nuclear receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ligand-dependent nuclear receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
excitatory extracellular ligand-gated ion channel activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the excitatory extracellular ligand-gated ion channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
direct ligand regulated sequence-specific dna binding transcription factor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the direct ligand regulated sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
chemokine (c-c motif) ligand 7 binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the chemokine (c-c motif) ligand 7 binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
chemokine (c-c motif) ligand 21 binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the chemokine (c-c motif) ligand 21 binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
intracellular ligand-gated calcium channel activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the intracellular ligand-gated calcium channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ligand-gated sodium channel activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ligand-gated sodium channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
Peroxidases heam-ligand binding site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Peroxidases heam-ligand binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Tumor necrosis factor ligand superfamily member 15 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Tumor necrosis factor ligand superfamily member 15 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Immunoglobulin C2-set-like, ligand-binding Gene SetFrom 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. |
NO signalling/Golgi transport ligand-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the NO signalling/Golgi transport ligand-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Tumour necrosis factor ligand 10/11 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Tumour necrosis factor ligand 10/11 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ligand-dependent nuclear receptor-interacting factor 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ligand-dependent nuclear receptor-interacting factor 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Tumour necrosis factor family protein, CD30 ligand type Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Tumour necrosis factor family protein, CD30 ligand type protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
C chemokine ligand 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the C chemokine ligand 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Neurotransmitter-gated ion-channel ligand-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Neurotransmitter-gated ion-channel ligand-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Extracellular ligand-binding receptor Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Extracellular ligand-binding receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Nuclear hormone receptor, ligand-binding, core Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Nuclear hormone receptor, ligand-binding, core protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
NKG2D ligand, RAE-1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the NKG2D ligand, RAE-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Growth hormone/erythropoietin receptor, ligand binding Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Growth hormone/erythropoietin receptor, ligand binding protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Calcium signal-modulating cyclophilin ligand Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Calcium signal-modulating cyclophilin ligand protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ephrin receptor ligand binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ephrin receptor ligand binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Nuclear hormone receptor, ligand-binding Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Nuclear hormone receptor, ligand-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Notch ligand, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Notch ligand, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Epidermal growth factor receptor ligand Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Epidermal growth factor receptor ligand protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Flt3 ligand Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Flt3 ligand protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Tumor necrosis factor ligand superfamily member 6 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Tumor necrosis factor ligand superfamily member 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
P-selectin glycoprotein ligand 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the P-selectin glycoprotein ligand 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Soluble ligand binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Soluble ligand binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
neuroactive ligand receptor interaction Gene SetFrom KEGG Pathways proteins participating in the neuroactive ligand receptor interaction pathway from the KEGG Pathways dataset. |
hypercholesterolemia, due to ligand-defective apo b Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypercholesterolemia, due to ligand-defective apo b phenotype from the curated OMIM Gene-Disease Associations dataset. |
ligand-dependent Gene SetFrom Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term ligand-dependent in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. |
Alpha6 beta4 integrin-ligand interactions Gene SetFrom PID Pathways proteins participating in the Alpha6 beta4 integrin-ligand interactions pathway from the PID Pathways dataset. |
Klotho-mediated ligand binding Gene Setproteins participating in the Klotho-mediated ligand binding pathway from the Reactome Pathways dataset. |
WNT ligand biogenesis and trafficking Gene Setproteins participating in the WNT ligand biogenesis and trafficking pathway from the Reactome Pathways dataset. |
betaKlotho-mediated ligand binding Gene Setproteins participating in the betaKlotho-mediated ligand binding pathway from the Reactome Pathways dataset. |
Eicosanoid ligand-binding receptors Gene Setproteins participating in the Eicosanoid ligand-binding receptors pathway from the Reactome Pathways dataset. |
Signaling by Ligand-Responsive EGFR Variants in Cancer Gene Setproteins participating in the Signaling by Ligand-Responsive EGFR Variants in Cancer pathway from the Reactome Pathways dataset. |
Calcitonin-like ligand receptors Gene Setproteins participating in the Calcitonin-like ligand receptors pathway from the Reactome Pathways dataset. |
WNT ligand secretion is abrogated by the PORCN inhibitor LGK974 Gene Setproteins participating in the WNT ligand secretion is abrogated by the PORCN inhibitor LGK974 pathway from the Reactome Pathways dataset. |
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants Gene Setproteins participating in the Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants pathway from the Reactome Pathways dataset. |
Amine ligand-binding receptors Gene Setproteins participating in the Amine ligand-binding receptors pathway from the Reactome Pathways dataset. |
Peptide ligand-binding receptors Gene Setproteins participating in the Peptide ligand-binding receptors pathway from the Reactome Pathways dataset. |
FGFR3c ligand binding and activation Gene Setproteins participating in the FGFR3c ligand binding and activation pathway from the Reactome Pathways dataset. |
Ligand-receptor interactions Gene Setproteins participating in the Ligand-receptor interactions pathway from the Reactome Pathways dataset. |
FGFR1c ligand binding and activation Gene Setproteins participating in the FGFR1c ligand binding and activation pathway from the Reactome Pathways dataset. |
FGFR1c and Klotho ligand binding and activation Gene Setproteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset. |
GPCR ligand binding Gene Setproteins participating in the GPCR ligand binding pathway from the Reactome Pathways dataset. |
Prostanoid ligand receptors Gene Setproteins participating in the Prostanoid ligand receptors pathway from the Reactome Pathways dataset. |
FGFR3 ligand binding and activation Gene Setproteins participating in the FGFR3 ligand binding and activation pathway from the Reactome Pathways dataset. |
FGFR3b ligand binding and activation Gene Setproteins participating in the FGFR3b ligand binding and activation pathway from the Reactome Pathways dataset. |
Ligand-gated ion channel transport Gene Setproteins participating in the Ligand-gated ion channel transport pathway from the Reactome Pathways dataset. |
Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor Gene Setproteins participating in the Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor pathway from the Reactome Pathways dataset. |
FGFR2 ligand binding and activation Gene Setproteins participating in the FGFR2 ligand binding and activation pathway from the Reactome Pathways dataset. |
VEGF ligand-receptor interactions Gene Setproteins participating in the VEGF ligand-receptor interactions pathway from the Reactome Pathways dataset. |
Hormone ligand-binding receptors Gene Setproteins participating in the Hormone ligand-binding receptors pathway from the Reactome Pathways dataset. |
FGFR2c ligand binding and activation Gene Setproteins participating in the FGFR2c ligand binding and activation pathway from the Reactome Pathways dataset. |
FGFR1b ligand binding and activation Gene Setproteins participating in the FGFR1b ligand binding and activation pathway from the Reactome Pathways dataset. |
FGFR2b ligand binding and activation Gene Setproteins participating in the FGFR2b ligand binding and activation pathway from the Reactome Pathways dataset. |
Hh ligand biogenesis disease Gene Setproteins participating in the Hh ligand biogenesis disease pathway from the Reactome Pathways dataset. |
FGFR4 ligand binding and activation Gene Setproteins participating in the FGFR4 ligand binding and activation pathway from the Reactome Pathways dataset. |
FGFR ligand binding and activation Gene Setproteins participating in the FGFR ligand binding and activation pathway from the Reactome Pathways dataset. |
negative regulation of TCF-dependent signaling by WNT ligand antagonists Gene Setproteins participating in the negative regulation of TCF-dependent signaling by WNT ligand antagonists pathway from the Reactome Pathways dataset. |
Hedgehog ligand biogenesis Gene Setproteins participating in the Hedgehog ligand biogenesis pathway from the Reactome Pathways dataset. |
FGFR1 ligand binding and activation Gene Setproteins participating in the FGFR1 ligand binding and activation pathway from the Reactome Pathways dataset. |
Glucagon-type ligand receptors Gene Setproteins participating in the Glucagon-type ligand receptors pathway from the Reactome Pathways dataset. |
Processing-defective Hh variants abrogate ligand secretion Gene Setproteins participating in the Processing-defective Hh variants abrogate ligand secretion pathway from the Reactome Pathways dataset. |
Small Ligand GPCRs(Mus musculus) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the Small Ligand GPCRs(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset. |
Small Ligand GPCRs(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the Small Ligand GPCRs(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chemokine (C-C Motif) Ligand 21 Measurement Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Chemokine (C-C Motif) Ligand 21 Measurement in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Chemokine (C-C Motif) Ligand 19 Measurement Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Chemokine (C-C Motif) Ligand 19 Measurement in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Chemokine (C-X-C Motif) Ligand 6 Measurement Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Chemokine (C-X-C Motif) Ligand 6 Measurement in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
positive regulation of chemokine (C-X-C motif) ligand 2 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of chemokine (C-X-C motif) ligand 2 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of chemokine (C-C motif) ligand 5 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of chemokine (C-C motif) ligand 5 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
chemokine (C-C motif) ligand 21 signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the chemokine (C-C motif) ligand 21 signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of chemokine (C-X-C motif) ligand 2 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of chemokine (C-X-C motif) ligand 2 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
chemokine (C-X-C motif) ligand 12 signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the chemokine (C-X-C motif) ligand 12 signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of tumor necrosis factor (ligand) superfamily member 11 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of tumor necrosis factor (ligand) superfamily member 11 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of tumor necrosis factor (ligand) superfamily member 11 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of tumor necrosis factor (ligand) superfamily member 11 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2023 genes participating in the extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2023 dataset. |
sequestering of extracellular ligand from receptor Gene SetFrom GO Biological Process Annotations 2023 genes participating in the sequestering of extracellular ligand from receptor biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of chemokine (C-C motif) ligand 5 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of chemokine (C-C motif) ligand 5 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
signaling receptor ligand precursor processing Gene SetFrom GO Biological Process Annotations 2023 genes participating in the signaling receptor ligand precursor processing biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of chemokine (C-X-C motif) ligand 2 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of chemokine (C-X-C motif) ligand 2 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of chemokine (C-X-C motif) ligand 1 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of chemokine (C-X-C motif) ligand 1 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
epidermal growth factor receptor ligand maturation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the epidermal growth factor receptor ligand maturation biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of chemokine (C-C motif) ligand 1 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of chemokine (C-C motif) ligand 1 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of chemokine (C-X-C motif) ligand 9 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of chemokine (C-X-C motif) ligand 9 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of chemokine (C-C motif) ligand 5 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of chemokine (C-C motif) ligand 5 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of signal transduction in absence of ligand Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of signal transduction in absence of ligand biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of tumor necrosis factor (ligand) superfamily member 11 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of tumor necrosis factor (ligand) superfamily member 11 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of chemokine (C-X-C motif) ligand 1 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of chemokine (C-X-C motif) ligand 1 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of chemokine (C-C motif) ligand 1 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of chemokine (C-C motif) ligand 1 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of chemokine (C-X-C motif) ligand 9 production Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of chemokine (C-X-C motif) ligand 9 production biological process from the curated GO Biological Process Annotations 2023 dataset. |
transforming growth factor beta ligand-receptor complex Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the transforming growth factor beta ligand-receptor complex cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
receptor ligand activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the receptor ligand activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ligand-gated calcium channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ligand-gated calcium channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ligand-gated monoatomic ion channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ligand-gated monoatomic ion channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
chemokine (C-C motif) ligand 7 binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the chemokine (C-C motif) ligand 7 binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
chemokine (C-C motif) ligand 5 binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the chemokine (C-C motif) ligand 5 binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
chemokine (C-C motif) ligand 19 binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the chemokine (C-C motif) ligand 19 binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
chemokine (C-C motif) ligand 21 binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the chemokine (C-C motif) ligand 21 binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ligand-gated sodium channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ligand-gated sodium channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
extracellular ligand-gated monoatomic ion channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the extracellular ligand-gated monoatomic ion channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
excitatory extracellular ligand-gated monoatomic ion channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the excitatory extracellular ligand-gated monoatomic ion channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
inhibitory extracellular ligand-gated monoatomic ion channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the inhibitory extracellular ligand-gated monoatomic ion channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ligand-gated monoatomic cation channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ligand-gated monoatomic cation channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ligand-gated monoatomic anion channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ligand-gated monoatomic anion channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
intracellular ligand-gated monoatomic ion channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the intracellular ligand-gated monoatomic ion channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ligand-gated channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ligand-gated channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
decreased tumor necrosis factor (ligand) superfamily member 11 level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased tumor necrosis factor (ligand) superfamily member 11 level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased tumor necrosis factor (ligand) superfamily member 11 level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased tumor necrosis factor (ligand) superfamily member 11 level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
ligand-gated ion channel activity involved in regulation of presynaptic membrane potential Gene SetFrom SynGO Synaptic Gene Annotations genes associated with the synaptic term ligand-gated ion channel activity involved in regulation of presynaptic membrane potential from the SynGO Synaptic Gene Annotations dataset. |
Small ligand GPCRs Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Small ligand GPCRs pathway from the WikiPathways Pathways 2024 dataset. |
Fas ligand pathway and stress induction of heat shock proteins Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Fas ligand pathway and stress induction of heat shock proteins pathway from the WikiPathways Pathways 2024 dataset. |
Amine ligand-binding receptors Gene Setproteins participating in the Amine ligand-binding receptors pathway from the Reactome Pathways 2024 dataset. |
Calcitonin-like ligand receptors Gene Setproteins participating in the Calcitonin-like ligand receptors pathway from the Reactome Pathways 2024 dataset. |
Caspase activation via Death Receptors in the presence of ligand Gene Setproteins participating in the Caspase activation via Death Receptors in the presence of ligand pathway from the Reactome Pathways 2024 dataset. |
Caspase activation via Dependence Receptors in the absence of ligand Gene Setproteins participating in the Caspase activation via Dependence Receptors in the absence of ligand pathway from the Reactome Pathways 2024 dataset. |
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants Gene Setproteins participating in the Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants pathway from the Reactome Pathways 2024 dataset. |
Defective regulation of TLR7 by endogenous ligand Gene Setproteins participating in the Defective regulation of TLR7 by endogenous ligand pathway from the Reactome Pathways 2024 dataset. |
Eicosanoid ligand-binding receptors Gene Setproteins participating in the Eicosanoid ligand-binding receptors pathway from the Reactome Pathways 2024 dataset. |
FGFR1 ligand binding and activation Gene Setproteins participating in the FGFR1 ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
FGFR1b ligand binding and activation Gene Setproteins participating in the FGFR1b ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
FGFR1c and Klotho ligand binding and activation Gene Setproteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
FGFR1c ligand binding and activation Gene Setproteins participating in the FGFR1c ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
FGFR2 ligand binding and activation Gene Setproteins participating in the FGFR2 ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
FGFR2b ligand binding and activation Gene Setproteins participating in the FGFR2b ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
FGFR2c ligand binding and activation Gene Setproteins participating in the FGFR2c ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
FGFR3 ligand binding and activation Gene Setproteins participating in the FGFR3 ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
FGFR3b ligand binding and activation Gene Setproteins participating in the FGFR3b ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
FGFR3c ligand binding and activation Gene Setproteins participating in the FGFR3c ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
FGFR4 ligand binding and activation Gene Setproteins participating in the FGFR4 ligand binding and activation pathway from the Reactome Pathways 2024 dataset. |
GPCR ligand binding Gene Setproteins participating in the GPCR ligand binding pathway from the Reactome Pathways 2024 dataset. |
Glucagon-type ligand receptors Gene Setproteins participating in the Glucagon-type ligand receptors pathway from the Reactome Pathways 2024 dataset. |
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand Gene Setproteins participating in the HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand pathway from the Reactome Pathways 2024 dataset. |
Hedgehog ligand biogenesis Gene Setproteins participating in the Hedgehog ligand biogenesis pathway from the Reactome Pathways 2024 dataset. |
Hh mutants abrogate ligand secretion Gene Setproteins participating in the Hh mutants abrogate ligand secretion pathway from the Reactome Pathways 2024 dataset. |
Hormone ligand-binding receptors Gene Setproteins participating in the Hormone ligand-binding receptors pathway from the Reactome Pathways 2024 dataset. |
IL-6-type cytokine receptor ligand interactions Gene Setproteins participating in the IL-6-type cytokine receptor ligand interactions pathway from the Reactome Pathways 2024 dataset. |
Ligand-receptor interactions Gene Setproteins participating in the Ligand-receptor interactions pathway from the Reactome Pathways 2024 dataset. |
Negative regulation of TCF-dependent signaling by WNT ligand antagonists Gene Setproteins participating in the Negative regulation of TCF-dependent signaling by WNT ligand antagonists pathway from the Reactome Pathways 2024 dataset. |
Peptide ligand-binding receptors Gene Setproteins participating in the Peptide ligand-binding receptors pathway from the Reactome Pathways 2024 dataset. |
Prostanoid ligand receptors Gene Setproteins participating in the Prostanoid ligand receptors pathway from the Reactome Pathways 2024 dataset. |
Regulation of TLR by endogenous ligand Gene Setproteins participating in the Regulation of TLR by endogenous ligand pathway from the Reactome Pathways 2024 dataset. |
Signaling by Ligand-Responsive EGFR Variants in Cancer Gene Setproteins participating in the Signaling by Ligand-Responsive EGFR Variants in Cancer pathway from the Reactome Pathways 2024 dataset. |
VEGF ligand-receptor interactions Gene Setproteins participating in the VEGF ligand-receptor interactions pathway from the Reactome Pathways 2024 dataset. |
WNT ligand biogenesis and trafficking Gene Setproteins participating in the WNT ligand biogenesis and trafficking pathway from the Reactome Pathways 2024 dataset. |
betaKlotho-mediated ligand binding Gene Setproteins participating in the betaKlotho-mediated ligand binding pathway from the Reactome Pathways 2024 dataset. |
positive regulation of chemokine (C-X-C motif) ligand 2 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of chemokine (C-X-C motif) ligand 2 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of chemokine (C-C motif) ligand 5 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of chemokine (C-C motif) ligand 5 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
chemokine (C-C motif) ligand 21 signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the chemokine (C-C motif) ligand 21 signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of chemokine (C-X-C motif) ligand 2 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of chemokine (C-X-C motif) ligand 2 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
chemokine (C-X-C motif) ligand 12 signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the chemokine (C-X-C motif) ligand 12 signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of tumor necrosis factor (ligand) superfamily member 11 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of tumor necrosis factor (ligand) superfamily member 11 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of tumor necrosis factor (ligand) superfamily member 11 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of tumor necrosis factor (ligand) superfamily member 11 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2025 genes participating in the extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2025 dataset. |
chemokine (C-C motif) ligand 2 signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the chemokine (C-C motif) ligand 2 signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
chemokine (C-C motif) ligand 5 signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the chemokine (C-C motif) ligand 5 signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
sequestering of extracellular ligand from receptor Gene SetFrom GO Biological Process Annotations 2025 genes participating in the sequestering of extracellular ligand from receptor biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of chemokine (C-C motif) ligand 5 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of chemokine (C-C motif) ligand 5 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
signaling receptor ligand precursor processing Gene SetFrom GO Biological Process Annotations 2025 genes participating in the signaling receptor ligand precursor processing biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of chemokine (C-X-C motif) ligand 2 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of chemokine (C-X-C motif) ligand 2 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of chemokine (C-X-C motif) ligand 1 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of chemokine (C-X-C motif) ligand 1 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
epidermal growth factor receptor ligand maturation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the epidermal growth factor receptor ligand maturation biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of chemokine (C-C motif) ligand 1 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of chemokine (C-C motif) ligand 1 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
ligand-independent adenylate cyclase-activating G protein-coupled receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the ligand-independent adenylate cyclase-activating G protein-coupled receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of chemokine (C-X-C motif) ligand 9 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of chemokine (C-X-C motif) ligand 9 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of chemokine (C-C motif) ligand 5 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of chemokine (C-C motif) ligand 5 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of signal transduction in absence of ligand Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of signal transduction in absence of ligand biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of tumor necrosis factor (ligand) superfamily member 11 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of tumor necrosis factor (ligand) superfamily member 11 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of chemokine (C-X-C motif) ligand 1 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of chemokine (C-X-C motif) ligand 1 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of chemokine (C-C motif) ligand 1 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of chemokine (C-C motif) ligand 1 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of chemokine (C-X-C motif) ligand 9 production Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of chemokine (C-X-C motif) ligand 9 production biological process from the curated GO Biological Process Annotations 2025 dataset. |
platelet-derived growth factor receptor-ligand complex Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the platelet-derived growth factor receptor-ligand complex cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
transforming growth factor beta ligand-receptor complex Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the transforming growth factor beta ligand-receptor complex cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
receptor ligand activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the receptor ligand activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ligand-gated channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ligand-gated channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ligand-gated calcium channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ligand-gated calcium channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ligand-gated monoatomic ion channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ligand-gated monoatomic ion channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
chemokine (C-C motif) ligand 7 binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the chemokine (C-C motif) ligand 7 binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
chemokine (C-C motif) ligand 5 binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the chemokine (C-C motif) ligand 5 binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
chemokine (C-C motif) ligand 19 binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the chemokine (C-C motif) ligand 19 binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
chemokine (C-C motif) ligand 21 binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the chemokine (C-C motif) ligand 21 binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ligand-gated monoatomic cation channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ligand-gated monoatomic cation channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ligand-gated sodium channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ligand-gated sodium channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
ligand-gated monoatomic anion channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ligand-gated monoatomic anion channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
extracellular ligand-gated monoatomic ion channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the extracellular ligand-gated monoatomic ion channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
excitatory extracellular ligand-gated monoatomic ion channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the excitatory extracellular ligand-gated monoatomic ion channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
intracellularly ligand-gated monoatomic ion channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the intracellularly ligand-gated monoatomic ion channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
inhibitory extracellular ligand-gated monoatomic ion channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the inhibitory extracellular ligand-gated monoatomic ion channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Transforming growth factor beta ligand-receptor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Transforming growth factor beta ligand-receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Transforming growth factor beta ligand-receptor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Transforming growth factor beta ligand-receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
platelet-derived growth factor receptor-ligand complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the platelet-derived growth factor receptor-ligand complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Neuroactive ligand-receptor interaction Gene SetFrom KEGG Pathways 2026 proteins participating in the Neuroactive ligand-receptor interaction pathway from the KEGG Pathways 2026 dataset. |
Neuroactive ligand signaling Gene SetFrom KEGG Pathways 2026 proteins participating in the Neuroactive ligand signaling pathway from the KEGG Pathways 2026 dataset. |
APELIN RECEPTOR EARLY ENDOGENOUS LIGAND Gene Setinteracting proteins for the APELIN RECEPTOR EARLY ENDOGENOUS LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
RECOMBINANT FLT3 LIGAND Gene Setinteracting proteins for the RECOMBINANT FLT3 LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
RECOMBINANT FAS LIGAND Gene Setinteracting proteins for the RECOMBINANT FAS LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
RECOMBINANT OX40 LIGAND Gene Setinteracting proteins for the RECOMBINANT OX40 LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
FAS LIGAND Gene Setinteracting proteins for the FAS LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
FMS-RELATED TYROSINE KINASE 3 LIGAND Gene Setinteracting proteins for the FMS-RELATED TYROSINE KINASE 3 LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
ADENOVIRAL TRANSDUCED HIL-12-EXPRESSING AUTOLOGOUS DENDRITIC CELLS INXN-3001 PLUS ACTIVATOR LIGAND INXN-1001 Gene Setinteracting proteins for the ADENOVIRAL TRANSDUCED HIL-12-EXPRESSING AUTOLOGOUS DENDRITIC CELLS INXN-3001 PLUS ACTIVATOR LIGAND INXN-1001 drug from theDGIdb Drug Targets 2026 dataset. |
PEPTIDE LIGAND 2 [PMID: 19055415] Gene Setinteracting proteins for the PEPTIDE LIGAND 2 [PMID: 19055415] drug from theDGIdb Drug Targets 2026 dataset. |
PD-1 LIGAND INHIBITOR Gene Setinteracting proteins for the PD-1 LIGAND INHIBITOR drug from theDGIdb Drug Targets 2026 dataset. |
NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 3 LIGAND 1 Gene Setinteracting proteins for the NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 3 LIGAND 1 drug from theDGIdb Drug Targets 2026 dataset. |
PROGRAMMED CELL DEATH 1 LIGAND 1 Gene Setinteracting proteins for the PROGRAMMED CELL DEATH 1 LIGAND 1 drug from theDGIdb Drug Targets 2026 dataset. |
SELECTIN P LIGAND Gene Setinteracting proteins for the SELECTIN P LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
RANK LIGAND Gene Setinteracting proteins for the RANK LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
OX-40 LIGAND Gene Setinteracting proteins for the OX-40 LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
CD30 LIGAND Gene Setinteracting proteins for the CD30 LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
4-1BB LIGAND Gene Setinteracting proteins for the 4-1BB LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
RECOMBINANT ADENOVIRUS 5 ENCODING TUMOR NECROSIS FACTOR-RELATED APOPTOSIS-INDUCING LIGAND Gene Setinteracting proteins for the RECOMBINANT ADENOVIRUS 5 ENCODING TUMOR NECROSIS FACTOR-RELATED APOPTOSIS-INDUCING LIGAND drug from theDGIdb Drug Targets 2026 dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bifunctional peroxisomal enzyme deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sepiapterin reductase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency 4 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoserine aminotransferase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
5-Oxoprolinase deficiency Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proopiomelanocortin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proopiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
21-hydroxylase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C1q deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interferon gamma receptor deficiency Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenylosuccinate lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Triosephosphate isomerase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ACTH deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ACTH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PROPERDIN DEFICIENCY, TYPE III Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inosine triphosphatase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arginase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hepatic lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor X deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycosylphosphatidylinositol deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Caspase-8 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enterokinase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myeloperoxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial phosphate carrier deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukocyte adhesion deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dihydropyrimidinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dihydropyrimidinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dimethylglycine dehydrogenase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cd59 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ornithine aminotransferase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gluthathione synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fumarase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fumarase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of transaldolase Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Argininosuccinate lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prekallikrein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prekallikrein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chitotriosidase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement 1s deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dihydropteridine reductase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cd8 deficiency, familial Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor H deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sucrase-isomaltase deficiency Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Asparagine synthetase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prolidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of beta-ureidopropionase Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MYD88 Deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Prekallikrein Deficiency from the curated CTD Gene-Disease Associations dataset. |
Methylenetetrahydrofolate reductase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease IgA Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lipase deficiency combined Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset. |
Transaldolase Deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Methylcobalamin Deficiency, CblG Type Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VLCAD deficiency from the curated CTD Gene-Disease Associations dataset. |
18-Hydroxylase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trehalase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Guanidinoacetate methyltransferase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TRANSCOBALAMIN II DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Prolidase Deficiency Gene SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dihydropyrimidinase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Deficiency Diseases Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deficiency Diseases from the curated CTD Gene-Disease Associations dataset. |
BISPHOSPHOGLYCERATE MUTASE DEFICIENCY Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CD59 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Myeloperoxidase Deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease IRAK4 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Butyrylcholinesterase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XII Deficiency from the curated CTD Gene-Disease Associations dataset. |
Aromatase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aromatase deficiency from the curated CTD Gene-Disease Associations dataset. |
Urocanase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Urocanase deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoserine Aminotransferase Deficiency Gene SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal dysplasia, hypohidrotic, with immune deficiency from the curated CTD Gene-Disease Associations dataset. |
Immunoglobulin a deficiency 2 Gene SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunoglobulin a deficiency 1 from the curated CTD Gene-Disease Associations dataset. |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
b cell deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
immunoglobulin alpha deficiency Gene SetFrom 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. |
intestinal disaccharidase deficiency Gene SetFrom 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 SetFrom 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. |
agat deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
serine deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
selective immunoglobulin deficiency disease Gene SetFrom 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. |
c3 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |