| Name |
|---|
FTCDNL1 Geneformiminotransferase cyclodeaminase N-terminal like Predicted to enable folic acid binding activity and transferase activity. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025] |
GRINA Geneglutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) Predicted to enable calcium channel activity. Predicted to be involved in apoptotic signaling pathway; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; and negative regulation of neuron apoptotic process. Predicted to act upstream of or within endoplasmic reticulum calcium ion homeostasis and negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway. Located in Golgi membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SLC17A6 Genesolute carrier family 17 (vesicular glutamate transporter), member 6 Enables L-glutamate uniporter activity. Involved in L-glutamate import and phosphate ion homeostasis. Located in synaptic vesicle membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SLC17A7 Genesolute carrier family 17 (vesicular glutamate transporter), member 7 The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq, Jul 2008] |
GRID2IP Geneglutamate receptor, ionotropic, delta 2 (Grid2) interacting protein Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 interacts with GRID2 and may control GRID2 signaling in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008] |
GLUL Geneglutamate-ammonia ligase The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
GRIA4 Geneglutamate receptor, ionotropic, AMPA 4 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008] |
SLC17A8 Genesolute carrier family 17 (vesicular glutamate transporter), member 8 This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] |
GRIN3A Geneglutamate receptor, ionotropic, N-methyl-D-aspartate 3A This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity. [provided by RefSeq, Jul 2008] |
GRIN3B Geneglutamate receptor, ionotropic, N-methyl-D-aspartate 3B The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015] |
GLUD1P4 Geneglutamate dehydrogenase 1 pseudogene 4 |
GLUD1P7 Geneglutamate dehydrogenase 1 pseudogene 7 |
SH3BGRL GeneSH3 domain binding glutamate-rich protein like Enables protein-RNA adaptor activity and ubiquitin-like ligase-substrate adaptor activity. Involved in positive regulation of cytoplasmic translational initiation and proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025] |
LOC2748 Geneglutamate dehydrogenase 1 pseudogene |
ERICH6B Geneglutamate-rich 6B |
LOC440040 Geneglutamate receptor, metabotropic 5 pseudogene |
GRIN1 Geneglutamate receptor, ionotropic, N-methyl D-aspartate 1 The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] |
ERICH6 Geneglutamate-rich 6 |
ERICH5 Geneglutamate-rich 5 |
ERICH4 Geneglutamate-rich 4 |
ERICH3 Geneglutamate-rich 3 Involved in cilium assembly. Located in cytoplasm and non-motile cilium. [provided by Alliance of Genome Resources, Mar 2025] |
ERICH2 Geneglutamate-rich 2 |
ERICH1 Geneglutamate-rich 1 |
PAGR1 GenePAXIP1 associated glutamate-rich protein 1 Enables nuclear estrogen receptor binding activity. Involved in positive regulation of cell cycle G1/S phase transition; positive regulation of intracellular estrogen receptor signaling pathway; and positive regulation of transcription by RNA polymerase II. Located in nucleus. Part of MLL3/4 complex. Biomarker of esophagus squamous cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025] |
SH3BGR GeneSH3 domain binding glutamate-rich protein Predicted to enable SH3 domain binding activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
GRIA3 Geneglutamate receptor, ionotropic, AMPA 3 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing at this locus results in different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008] |
GRWD1 Geneglutamate-rich WD repeat containing 1 This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [provided by RefSeq, Feb 2012] |
GRIK1 Geneglutamate receptor, ionotropic, kainate 1 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008] |
GRIK2 Geneglutamate receptor, ionotropic, kainate 2 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive cognitive disability. [provided by RefSeq, Jul 2008] |
GRIK3 Geneglutamate receptor, ionotropic, kainate 3 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. It is not certain if the subunit encoded by this gene is subject to RNA editing as the other 2 family members (GRIK1 and GRIK2). A Ser310Ala polymorphism has been associated with schizophrenia, and there are conflicting reports of its association with the pathogenesis of delirium tremens in alcoholics. [provided by RefSeq, Jul 2008] |
GRIK4 Geneglutamate receptor, ionotropic, kainate 4 This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] |
GRIK5 Geneglutamate receptor, ionotropic, kainate 5 This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] |
GRIP1 Geneglutamate receptor interacting protein 1 This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010] |
GRIP2 Geneglutamate receptor interacting protein 2 Predicted to enable glutamate receptor binding activity. Predicted to be involved in several processes, including neurotransmitter receptor transport, endosome to postsynaptic membrane; positive regulation of AMPA glutamate receptor clustering; and positive regulation of excitatory postsynaptic potential. Predicted to act upstream of or within Notch signaling pathway; artery smooth muscle contraction; and positive regulation of blood pressure. Predicted to be located in dendritic shaft. Predicted to be active in glutamatergic synapse and postsynaptic density, intracellular component. [provided by Alliance of Genome Resources, Mar 2025] |
SLC25A22 Genesolute carrier family 25 (mitochondrial carrier: glutamate), member 22 This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010] |
GRM8 Geneglutamate receptor, metabotropic 8 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] |
GRM4 Geneglutamate receptor, metabotropic 4 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] |
GRM5 Geneglutamate receptor, metabotropic 5 This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] |
GRM6 Geneglutamate receptor, metabotropic 6 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Mutations in this gene result in congenital stationary night blindness type 1B. [provided by RefSeq, May 2018] |
GRM7 Geneglutamate receptor, metabotropic 7 L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] |
GRM1 Geneglutamate receptor, metabotropic 1 This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013] |
GRM2 Geneglutamate receptor, metabotropic 2 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017] |
GRM3 Geneglutamate receptor, metabotropic 3 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Jul 2008] |
GAD1 Geneglutamate decarboxylase 1 (brain, 67kDa) This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008] |
GAD2 Geneglutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008] |
GRIN2B Geneglutamate receptor, ionotropic, N-methyl D-aspartate 2B This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017] |
GRIN2C Geneglutamate receptor, ionotropic, N-methyl D-aspartate 2C This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] |
GRIN2A Geneglutamate receptor, ionotropic, N-methyl D-aspartate 2A This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] |
GRIN2D Geneglutamate receptor, ionotropic, N-methyl D-aspartate 2D N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by RefSeq, Mar 2010] |
LOC402279 Geneglutamate receptor, metabotropic 8 pseudogene |
LOC724104 GeneSH3 domain binding glutamate-rich protein like 3 pseudogene |
PELP1 Geneproline, glutamate and leucine rich protein 1 This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] |
LOC105376336 Geneglutamate receptor ionotropic, NMDA 2D-like |
GADL1 Geneglutamate decarboxylase-like 1 Predicted to enable carboxy-lyase activity. Predicted to be involved in carboxylic acid metabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
GRIA2 Geneglutamate receptor, ionotropic, AMPA 2 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008] |
GRIA1 Geneglutamate receptor, ionotropic, AMPA 1 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
SH3BGRL3 GeneSH3 domain binding glutamate-rich protein like 3 Involved in cytoskeleton organization. Located in cytosol; nuclear body; and ruffle membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SH3BGRL2 GeneSH3 domain binding glutamate-rich protein like 2 Predicted to enable SH3 domain binding activity. Located in nuclear membrane and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
GLUD2 Geneglutamate dehydrogenase 2 The protein encoded by this gene is localized to the mitochondrion and acts as a homohexamer to recycle glutamate during neurotransmission. The encoded enzyme catalyzes the reversible oxidative deamination of glutamate to alpha-ketoglutarate. This gene is intronless.[provided by RefSeq, Jan 2010] |
GLUD1 Geneglutamate dehydrogenase 1 This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016] |
GLUD1P5 Geneglutamate dehydrogenase 1 pseudogene 5 |
GLUD1P3 Geneglutamate dehydrogenase 1 pseudogene 3 |
GLUD1P8 Geneglutamate dehydrogenase 1 pseudogene 8 |
GLUD1P9 Geneglutamate dehydrogenase 1 pseudogene 9 |
GCLM Geneglutamate-cysteine ligase, modifier subunit Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] |
GCLC Geneglutamate-cysteine ligase, catalytic subunit Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010] |
SLC25A13 Genesolute carrier family 25 (aspartate/glutamate carrier), member 13 This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] |
SLC25A12 Genesolute carrier family 25 (aspartate/glutamate carrier), member 12 This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012] |
SLC25A18 Genesolute carrier family 25 (glutamate carrier), member 18 Enables amino acid:proton symporter activity. Involved in L-glutamate transmembrane transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
ARGLU1 Genearginine and glutamate rich 1 Enables nuclear receptor coactivator activity and pre-mRNA binding activity. Involved in regulation of alternative mRNA splicing, via spliceosome. Located in cytosol; mitochondrion; and nuclear speck. [provided by Alliance of Genome Resources, Mar 2025] |
GLULP1 Geneglutamate-ammonia ligase (glutamine synthetase) pseudogene 1 |
GLULP2 Geneglutamate-ammonia ligase (glutamine synthetase) pseudogene 2 |
GLULP3 Geneglutamate-ammonia ligase (glutamine synthetase) pseudogene 3 |
GLULP4 Geneglutamate-ammonia ligase (glutamine synthetase) pseudogene 4 |
GLULP5 Geneglutamate-ammonia ligase (glutamine synthetase) pseudogene 5 |
GLULP6 Geneglutamate-ammonia ligase (glutamine synthetase) pseudogene 6 |
LEKR1 Geneleucine, glutamate and lysine rich 1 |
GRID1 Geneglutamate receptor, ionotropic, delta 1 This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009] |
GRID2 Geneglutamate receptor, ionotropic, delta 2 The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014] |
SLC1A4 Genesolute carrier family 1 (glutamate/neutral amino acid transporter), member 4 The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017] |
SLC1A6 Genesolute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 Enables L-aspartate transmembrane transporter activity; L-glutamate transmembrane transporter activity; and glutamate:sodium symporter activity. Involved in L-aspartate import across plasma membrane; L-glutamate import across plasma membrane; and neurotransmitter uptake. Located in intermediate filament cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SLC1A7 Genesolute carrier family 1 (glutamate transporter), member 7 Enables glutamate:sodium symporter activity. Involved in neurotransmitter uptake. Predicted to be located in photoreceptor cell terminal bouton. Predicted to be active in glutamatergic synapse; postsynaptic membrane; and presynaptic membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SLC1A1 Genesolute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010] |
SLC1A2 Genesolute carrier family 1 (glial high affinity glutamate transporter), member 2 This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017] |
SLC1A3 Genesolute carrier family 1 (glial high affinity glutamate transporter), member 3 This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014] |
CCER1 Genecoiled-coil glutamate-rich protein 1 |
CCER2 Genecoiled-coil glutamate-rich protein 2 Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
DGLUCY GeneD-glutamate cyclase Predicted to enable D-glutamate cyclase activity. Predicted to be involved in glutamate metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
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. |
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. |
glutamate formiminotransferase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the glutamate formiminotransferase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Glutamate Formiminotransferase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Glutamate Formiminotransferase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Glutamate formiminotransferase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Glutamate formiminotransferase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Glutamate formiminotransferase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Glutamate formiminotransferase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Glutamate formiminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glutamate formiminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Formiminotransferase, N-terminal subdomain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Formiminotransferase, N-terminal subdomain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Formiminotransferase catalytic domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Formiminotransferase catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Formiminotransferase, C-terminal subdomain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Formiminotransferase, C-terminal subdomain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Formiminotransferase subdomain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Formiminotransferase subdomain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ionotropic glutamate receptor, L-glutamate and glycine-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ionotropic glutamate receptor, L-glutamate and glycine-binding domain protein domain from the InterPro Predicted Protein Domain Annotations 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. |
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. |
Glutamate-Cysteine Ligase Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Glutamate-Cysteine Ligase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deficiency Of Glutamate Decarboxylase Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deficiency Of Glutamate Decarboxylase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
glutamate-cysteine ligase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease glutamate-cysteine ligase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Glutamate pyruvate transaminase 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glutamate pyruvate transaminase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
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. |
regulation of ck1/cdk5 by type 1 glutamate receptors Gene SetFrom Biocarta Pathways proteins participating in the regulation of ck1/cdk5 by type 1 glutamate receptors pathway from the Biocarta Pathways dataset. |
glutamate-cysteine ligase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the glutamate-cysteine ligase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
ionotropic glutamate receptor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the ionotropic glutamate receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
n-methyl-d-aspartate selective glutamate receptor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the n-methyl-d-aspartate selective glutamate receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
clathrin-sculpted glutamate transport vesicle membrane Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the clathrin-sculpted glutamate transport vesicle membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
clathrin-sculpted glutamate transport vesicle Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the clathrin-sculpted glutamate transport vesicle cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
kainate selective glutamate receptor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the kainate selective glutamate receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
ionotropic glutamate receptor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the ionotropic glutamate receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
n-methyl-d-aspartate selective glutamate receptor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the n-methyl-d-aspartate selective glutamate receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
methotrexate-alpha glutamate Gene SetFrom CTD Gene-Chemical Interactions genes/proteins interacting with the chemical methotrexate-alpha glutamate from the curated CTD Gene-Chemical Interactions dataset. |
glutamate Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term glutamate in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
l-glutamate(1-) import into cell Gene SetFrom GO Biological Process Annotations 2015 genes participating in the l-glutamate(1-) import into cell biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
response to l-glutamate Gene SetFrom GO Biological Process Annotations 2015 genes participating in the response to l-glutamate biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of n-methyl-d-aspartate selective glutamate receptor activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of n-methyl-d-aspartate selective glutamate receptor activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
ionotropic glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the ionotropic glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization biological process from the curated GO Biological Process Annotations 2015 dataset. |
l-glutamate transmembrane transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the l-glutamate transmembrane transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of glutamate secretion Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of glutamate secretion biological process from the curated GO Biological Process Annotations 2015 dataset. |
l-glutamate uptake involved in synaptic transmission Gene SetFrom GO Biological Process Annotations 2015 genes participating in the l-glutamate uptake involved in synaptic transmission biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of glutamate metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of glutamate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of l-glutamate transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of l-glutamate transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of glutamate-cysteine ligase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of glutamate-cysteine ligase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
g-protein coupled glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the g-protein coupled glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
glutamate metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glutamate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
phospholipase c-activating g-protein coupled glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the phospholipase c-activating g-protein coupled glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of glutamate secretion Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of glutamate secretion biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of glutamate-cysteine ligase activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of glutamate-cysteine ligase activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of glutamate secretion Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of glutamate secretion biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of glutamate uptake involved in transmission of nerve impulse Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of glutamate uptake involved in transmission of nerve impulse biological process from the curated GO Biological Process Annotations 2015 dataset. |
alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering Gene SetFrom GO Biological Process Annotations 2015 genes participating in the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of glutamate metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of glutamate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
glutamate catabolic process to aspartate Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glutamate catabolic process to aspartate biological process from the curated GO Biological Process Annotations 2015 dataset. |
proline catabolic process to glutamate Gene SetFrom GO Biological Process Annotations 2015 genes participating in the proline catabolic process to glutamate biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of glutamate secretion, neurotransmission Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of glutamate secretion, neurotransmission biological process from the curated GO Biological Process Annotations 2015 dataset. |
adenylate cyclase-inhibiting g-protein coupled glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the adenylate cyclase-inhibiting g-protein coupled glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of l-glutamate transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of l-glutamate transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
glutamate catabolic process to 2-oxoglutarate Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glutamate catabolic process to 2-oxoglutarate biological process from the curated GO Biological Process Annotations 2015 dataset. |
l-glutamate transport Gene SetFrom GO Biological Process Annotations 2015 genes participating in the l-glutamate transport biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of kainate selective glutamate receptor activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of kainate selective glutamate receptor activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity biological process from the curated GO Biological Process Annotations 2015 dataset. |
glutamate catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glutamate catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of l-glutamate import Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of l-glutamate import biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of glutamate metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of glutamate metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
l-glutamate import into cell Gene SetFrom GO Biological Process Annotations 2015 genes participating in the l-glutamate import into cell biological process from the curated GO Biological Process Annotations 2015 dataset. |
glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
glutamate biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glutamate biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of glutamate secretion, neurotransmission Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of glutamate secretion, neurotransmission biological process from the curated GO Biological Process Annotations 2015 dataset. |
l-glutamate import Gene SetFrom GO Biological Process Annotations 2015 genes participating in the l-glutamate import biological process from the curated GO Biological Process Annotations 2015 dataset. |
histidine catabolic process to glutamate and formamide Gene SetFrom GO Biological Process Annotations 2015 genes participating in the histidine catabolic process to glutamate and formamide biological process from the curated GO Biological Process Annotations 2015 dataset. |
glutamate secretion Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glutamate secretion biological process from the curated GO Biological Process Annotations 2015 dataset. |
histidine catabolic process to glutamate and formate Gene SetFrom GO Biological Process Annotations 2015 genes participating in the histidine catabolic process to glutamate and formate biological process from the curated GO Biological Process Annotations 2015 dataset. |
glutamate decarboxylation to succinate Gene SetFrom GO Biological Process Annotations 2015 genes participating in the glutamate decarboxylation to succinate biological process from the curated GO Biological Process Annotations 2015 dataset. |
ionotropic glutamate receptor complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the ionotropic glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
n-methyl-d-aspartate selective glutamate receptor complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the n-methyl-d-aspartate selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
glutamate-cysteine ligase complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the glutamate-cysteine ligase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
clathrin-sculpted glutamate transport vesicle membrane Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the clathrin-sculpted glutamate transport vesicle membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
kainate selective glutamate receptor complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the kainate selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
kainate selective glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the kainate selective glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate-trna ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate-trna ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate-ammonia ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate-ammonia ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
l-glutamate transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the l-glutamate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate formimidoyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate formimidoyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate-trna(gln) ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate-trna(gln) ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
cystine:glutamate antiporter activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the cystine:glutamate antiporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ionotropic glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ionotropic glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
g-protein coupled glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the g-protein coupled glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
peptide-glutamate-n-acetyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the peptide-glutamate-n-acetyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
saccharopine dehydrogenase (nad+, l-glutamate-forming) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the saccharopine dehydrogenase (nad+, l-glutamate-forming) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate-5-semialdehyde dehydrogenase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate-5-semialdehyde dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate dehydrogenase (nad+) activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate dehydrogenase (nad+) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
acetyl-coa:l-glutamate n-acetyltransferase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the acetyl-coa:l-glutamate n-acetyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
type 3 metabotropic glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the type 3 metabotropic glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
type 5 metabotropic glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the type 5 metabotropic glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
adenylate cyclase inhibiting g-protein coupled glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the adenylate cyclase inhibiting g-protein coupled glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
group ii metabotropic glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the group ii metabotropic glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
ionotropic glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the ionotropic glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate 5-kinase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate 5-kinase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate-cysteine ligase catalytic subunit binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate-cysteine ligase catalytic subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
extracellular-glutamate-gated ion channel activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the extracellular-glutamate-gated ion channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
group iii metabotropic glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the group iii metabotropic glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate-cysteine ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate-cysteine ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate:sodium symporter activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
high-affinity glutamate transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the high-affinity glutamate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
n-methyl-d-aspartate selective glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the n-methyl-d-aspartate selective glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
glutamate dehydrogenase [nad(p)+] activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the glutamate dehydrogenase [nad(p)+] activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
citrate-l-glutamate ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the citrate-l-glutamate ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
n-acetyl-l-aspartate-l-glutamate ligase activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the n-acetyl-l-aspartate-l-glutamate ligase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
Multiple sclerosis--Brain Glutamate Levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Multiple sclerosis--Brain Glutamate Levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
DL-Glutamate Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the DL-Glutamate metabolite from the curated HMDB Metabolites of Enzymes dataset. |
Tetrahydropteroyltri-L-glutamate Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the Tetrahydropteroyltri-L-glutamate metabolite from the curated HMDB Metabolites of Enzymes dataset. |
5-Methyltetrahydropteroyltri-L-glutamate Gene SetFrom HMDB Metabolites of Enzymes interacting proteins for the 5-Methyltetrahydropteroyltri-L-glutamate metabolite from the curated HMDB Metabolites of Enzymes dataset. |
glutamate biosynthesis/degradation Gene SetFrom HumanCyc Pathways proteins participating in the glutamate biosynthesis/degradation pathway from the HumanCyc Pathways dataset. |
glutamate removal from folates Gene SetFrom HumanCyc Pathways proteins participating in the glutamate removal from folates pathway from the HumanCyc Pathways dataset. |
glutamate dependent acid resistance Gene SetFrom HumanCyc Pathways proteins participating in the glutamate dependent acid resistance pathway from the HumanCyc Pathways dataset. |
glutamine degradation/glutamate biosynthesis Gene SetFrom HumanCyc Pathways proteins participating in the glutamine degradation/glutamate biosynthesis pathway from the HumanCyc Pathways dataset. |
Ionotropic glutamate receptor, metazoa Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ionotropic glutamate receptor, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamate receptor-interacting protein 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate receptor-interacting protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamate receptor-interacting protein 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate receptor-interacting protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
GPCR, family 3, metabotropic glutamate receptor 8 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the GPCR, family 3, metabotropic glutamate receptor 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
GPCR, family 3, metabotropic glutamate receptor 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the GPCR, family 3, metabotropic glutamate receptor 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
GPCR, family 3, metabotropic glutamate receptor 3 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the GPCR, family 3, metabotropic glutamate receptor 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
GPCR, family 3, metabotropic glutamate receptor 5 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the GPCR, family 3, metabotropic glutamate receptor 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
GPCR, family 3, metabotropic glutamate receptor 4 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the GPCR, family 3, metabotropic glutamate receptor 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
GPCR, family 3, metabotropic glutamate receptor 7 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the GPCR, family 3, metabotropic glutamate receptor 7 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
GPCR, family 3, metabotropic glutamate receptor 6 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the GPCR, family 3, metabotropic glutamate receptor 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamate-rich protein 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate-rich protein 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamate-cysteine ligase catalytic subunit Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate-cysteine ligase catalytic subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamate 5-kinase, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate 5-kinase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamate/phenylalanine/leucine/valine dehydrogenase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate/phenylalanine/leucine/valine dehydrogenase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Metabotropic glutamate receptor, Homer-binding domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Metabotropic glutamate receptor, Homer-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Coiled-coil domain-containing glutamate-rich protein family 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Coiled-coil domain-containing glutamate-rich protein family 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Ionotropic glutamate receptor Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Ionotropic glutamate receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Aspartate/glutamate/uridylate kinase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Aspartate/glutamate/uridylate kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamate-rich protein 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate-rich protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamate/acetylglutamate kinase Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate/acetylglutamate kinase protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
GPCR, family 3, metabotropic glutamate receptor 2 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the GPCR, family 3, metabotropic glutamate receptor 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamate [NMDA] receptor, epsilon subunit, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate [NMDA] receptor, epsilon subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Glutamate-tRNA ligase, bacterial/mitochondrial Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate-tRNA ligase, bacterial/mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
GPCR, family 3, metabotropic glutamate receptor Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the GPCR, family 3, metabotropic glutamate receptor protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
glutamate metabolism Gene SetFrom KEGG Pathways proteins participating in the glutamate metabolism pathway from the KEGG Pathways dataset. |
d glutamine and d glutamate metabolism Gene SetFrom KEGG Pathways proteins participating in the d glutamine and d glutamate metabolism pathway from the KEGG Pathways dataset. |
abnormal glutamate-mediated receptor currents Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal glutamate-mediated receptor currents phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
loss of glutamate neurons Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the loss of glutamate neurons phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
increased circulating glutamate dehydrogenase level Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased circulating glutamate dehydrogenase level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal circulating glutamate dehydrogenase level Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal circulating glutamate dehydrogenase level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased synaptic glutamate release Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased synaptic glutamate release phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal synaptic glutamate release Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal synaptic glutamate release phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
Glutamine glutamate conversion Gene SetFrom PANTHER Pathways proteins participating in the Glutamine glutamate conversion pathway from the PANTHER Pathways dataset. |
Metabotropic glutamate receptor group I pathway Gene SetFrom PANTHER Pathways proteins participating in the Metabotropic glutamate receptor group I pathway pathway from the PANTHER Pathways dataset. |
Metabotropic glutamate receptor group III pathway Gene SetFrom PANTHER Pathways proteins participating in the Metabotropic glutamate receptor group III pathway pathway from the PANTHER Pathways dataset. |
Ionotropic glutamate receptor pathway Gene SetFrom PANTHER Pathways proteins participating in the Ionotropic glutamate receptor pathway pathway from the PANTHER Pathways dataset. |
Metabotropic glutamate receptor group II pathway Gene SetFrom PANTHER Pathways proteins participating in the Metabotropic glutamate receptor group II pathway pathway from the PANTHER Pathways dataset. |
glutamate Gene SetFrom Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term glutamate in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. |
Class C/3 (Metabotropic glutamate/pheromone receptors) Gene Setproteins participating in the Class C/3 (Metabotropic glutamate/pheromone receptors) pathway from the Reactome Pathways dataset. |
Activation of NMDA receptor upon glutamate binding and postsynaptic events Gene Setproteins participating in the Activation of NMDA receptor upon glutamate binding and postsynaptic events pathway from the Reactome Pathways dataset. |
Unblocking of NMDA receptor, glutamate binding and activation Gene Setproteins participating in the Unblocking of NMDA receptor, glutamate binding and activation pathway from the Reactome Pathways dataset. |
Glutamate Neurotransmitter Release Cycle Gene Setproteins participating in the Glutamate Neurotransmitter Release Cycle pathway from the Reactome Pathways dataset. |
Activation of Kainate Receptors upon glutamate binding Gene Setproteins participating in the Activation of Kainate Receptors upon glutamate binding pathway from the Reactome Pathways dataset. |
Astrocytic Glutamate-Glutamine Uptake And Metabolism Gene Setproteins participating in the Astrocytic Glutamate-Glutamine Uptake And Metabolism pathway from the Reactome Pathways dataset. |
Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity Gene Setproteins participating in the Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity pathway from the Reactome Pathways dataset. |
GPCRs, Class C Metabotropic glutamate, pheromone(Mus musculus) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the GPCRs, Class C Metabotropic glutamate, pheromone(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset. |
GPCRs, Class C Metabotropic glutamate, pheromone(Homo sapiens) Gene SetFrom WikiPathways Pathways 2014 proteins participating in the GPCRs, Class C Metabotropic glutamate, pheromone(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset. |
peptidyl-glutamate ADP-deribosylation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the peptidyl-glutamate ADP-deribosylation biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of AMPA glutamate receptor clustering Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of AMPA glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2023 dataset. |
adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
L-glutamate transmembrane transport Gene SetFrom GO Biological Process Annotations 2023 genes participating in the L-glutamate transmembrane transport biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutamate secretion Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutamate secretion biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of glutamate uptake involved in transmission of nerve impulse Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of glutamate uptake involved in transmission of nerve impulse biological process from the curated GO Biological Process Annotations 2023 dataset. |
G protein-coupled glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the G protein-coupled glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
ionotropic glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the ionotropic glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of L-glutamate import across plasma membrane Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of L-glutamate import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutamate biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutamate biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
intracellular glutamate homeostasis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the intracellular glutamate homeostasis biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutamate catabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutamate catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutamate metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutamate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of NMDA glutamate receptor activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of NMDA glutamate receptor activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
AMPA glutamate receptor clustering Gene SetFrom GO Biological Process Annotations 2023 genes participating in the AMPA glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2023 dataset. |
NMDA glutamate receptor clustering Gene SetFrom GO Biological Process Annotations 2023 genes participating in the NMDA glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of glutamate uptake involved in transmission of nerve impulse Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of glutamate uptake involved in transmission of nerve impulse biological process from the curated GO Biological Process Annotations 2023 dataset. |
cellular response to L-glutamate Gene SetFrom GO Biological Process Annotations 2023 genes participating in the cellular response to L-glutamate biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of NMDA glutamate receptor activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of NMDA glutamate receptor activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
phospholipase C-activating G protein-coupled glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the phospholipase C-activating G protein-coupled glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
L-glutamate import Gene SetFrom GO Biological Process Annotations 2023 genes participating in the L-glutamate import biological process from the curated GO Biological Process Annotations 2023 dataset. |
L-glutamate import across plasma membrane Gene SetFrom GO Biological Process Annotations 2023 genes participating in the L-glutamate import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset. |
response to L-glutamate Gene SetFrom GO Biological Process Annotations 2023 genes participating in the response to L-glutamate biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of glutamate secretion Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of glutamate secretion biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of L-glutamate import across plasma membrane Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of L-glutamate import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of glutamate metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of glutamate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutamate catabolic process via 2-oxoglutarate Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutamate catabolic process via 2-oxoglutarate biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of kainate selective glutamate receptor activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of kainate selective glutamate receptor activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of glutamate secretion, neurotransmission Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of glutamate secretion, neurotransmission biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of glutamate metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of glutamate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutamate decarboxylation to succinate Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutamate decarboxylation to succinate biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of AMPA glutamate receptor clustering Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of AMPA glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of glutamate-cysteine ligase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of glutamate-cysteine ligase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
arginine catabolic process to glutamate Gene SetFrom GO Biological Process Annotations 2023 genes participating in the arginine catabolic process to glutamate biological process from the curated GO Biological Process Annotations 2023 dataset. |
proline catabolic process to glutamate Gene SetFrom GO Biological Process Annotations 2023 genes participating in the proline catabolic process to glutamate biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of glutamate receptor clustering Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of L-glutamate import across plasma membrane Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of L-glutamate import across plasma membrane biological process from the curated GO Biological Process Annotations 2023 dataset. |
glutamate receptor clustering Gene SetFrom GO Biological Process Annotations 2023 genes participating in the glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of glutamate secretion Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of glutamate secretion biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of glutamate metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of glutamate metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of glutamate-cysteine ligase activity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of glutamate-cysteine ligase activity biological process from the curated GO Biological Process Annotations 2023 dataset. |
AMPA glutamate receptor complex Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the AMPA glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
ionotropic glutamate receptor complex Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the ionotropic glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
NMDA selective glutamate receptor complex Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the NMDA selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
clathrin-sculpted glutamate transport vesicle membrane Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the clathrin-sculpted glutamate transport vesicle membrane cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
kainate selective glutamate receptor complex Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the kainate selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
clathrin-sculpted glutamate transport vesicle Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the clathrin-sculpted glutamate transport vesicle cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
ionotropic glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ionotropic glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-glutamate transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-glutamate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
high-affinity L-glutamate transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the high-affinity L-glutamate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
extracellularly glutamate-gated chloride channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the extracellularly glutamate-gated chloride channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate:sodium symporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
type 2 metabotropic glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the type 2 metabotropic glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
type 3 metabotropic glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the type 3 metabotropic glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
ionotropic glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the ionotropic glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
NMDA glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the NMDA glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate-gated calcium ion channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate-gated calcium ion channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
3-sulfino-L-alanine: proton, glutamate antiporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the 3-sulfino-L-alanine: proton, glutamate antiporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
aspartate:glutamate, proton antiporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the aspartate:glutamate, proton antiporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate formimidoyltransferase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate formimidoyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate dehydrogenase (NAD+) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate dehydrogenase (NAD+) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate dehydrogenase [NAD(P)+] activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate dehydrogenase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
type 8 metabotropic glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the type 8 metabotropic glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
type 5 metabotropic glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the type 5 metabotropic glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate-tRNA ligase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate-tRNA ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
NAD+-protein-glutamate ADP-ribosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the NAD+-protein-glutamate ADP-ribosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
NAD+-histone H2BE35 glutamate ADP-ribosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the NAD+-histone H2BE35 glutamate ADP-ribosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate-ammonia ligase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate-ammonia ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
kainate selective glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the kainate selective glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
AMPA glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the AMPA glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate-cysteine ligase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate-cysteine ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate-cysteine ligase catalytic subunit binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate-cysteine ligase catalytic subunit binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate 5-kinase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate 5-kinase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate-5-semialdehyde dehydrogenase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate-5-semialdehyde dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
extracellularly glutamate-gated ion channel activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the extracellularly glutamate-gated ion channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
adenylate cyclase inhibiting G protein-coupled glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the adenylate cyclase inhibiting G protein-coupled glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
group III metabotropic glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the group III metabotropic glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate-tRNA(Gln) ligase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate-tRNA(Gln) ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
N-acetyl-L-aspartate-L-glutamate ligase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the N-acetyl-L-aspartate-L-glutamate ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
acetyl-CoA:L-glutamate N-acetyltransferase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the acetyl-CoA:L-glutamate N-acetyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
L-glutamate uniporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the L-glutamate uniporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
glutamate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the glutamate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
citrate-L-glutamate ligase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the citrate-L-glutamate ligase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
cystine:glutamate antiporter activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the cystine:glutamate antiporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
peptide-glutamate-alpha-N-acetyltransferase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the peptide-glutamate-alpha-N-acetyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
group II metabotropic glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the group II metabotropic glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
G protein-coupled glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the G protein-coupled glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
para-aminobenzoyl-glutamate hydrolase activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the para-aminobenzoyl-glutamate hydrolase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
G protein-coupled glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the G protein-coupled glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
abnormal glutamate-mediated receptor currents Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal glutamate-mediated receptor currents phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased glutamate decarboxylase activity Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased glutamate decarboxylase activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
loss of glutamate neurons Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the loss of glutamate neurons phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal synaptic glutamate release Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal synaptic glutamate release phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased synaptic glutamate release Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased synaptic glutamate release phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased circulating glutamate dehydrogenase level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased circulating glutamate dehydrogenase level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
GPCRs class C metabotropic glutamate pheromone Gene SetFrom WikiPathways Pathways 2024 proteins participating in the GPCRs class C metabotropic glutamate pheromone pathway from the WikiPathways Pathways 2024 dataset. |
Activation of kainate receptors upon glutamate binding Gene Setproteins participating in the Activation of kainate receptors upon glutamate binding pathway from the Reactome Pathways 2024 dataset. |
Astrocytic Glutamate-Glutamine Uptake And Metabolism Gene Setproteins participating in the Astrocytic Glutamate-Glutamine Uptake And Metabolism pathway from the Reactome Pathways 2024 dataset. |
Class C/3 (Metabotropic glutamate/pheromone receptors) Gene Setproteins participating in the Class C/3 (Metabotropic glutamate/pheromone receptors) pathway from the Reactome Pathways 2024 dataset. |
Glutamate Neurotransmitter Release Cycle Gene Setproteins participating in the Glutamate Neurotransmitter Release Cycle pathway from the Reactome Pathways 2024 dataset. |
Glutamate and glutamine metabolism Gene Setproteins participating in the Glutamate and glutamine metabolism pathway from the Reactome Pathways 2024 dataset. |
Glutamate binding, activation of AMPA receptors and synaptic plasticity Gene Setproteins participating in the Glutamate binding, activation of AMPA receptors and synaptic plasticity pathway from the Reactome Pathways 2024 dataset. |
Sensory perception of sweet, bitter, and umami (glutamate) taste Gene Setproteins participating in the Sensory perception of sweet, bitter, and umami (glutamate) taste pathway from the Reactome Pathways 2024 dataset. |
Unblocking of NMDA receptors, glutamate binding and activation Gene Setproteins participating in the Unblocking of NMDA receptors, glutamate binding and activation pathway from the Reactome Pathways 2024 dataset. |
peptidyl-glutamate ADP-deribosylation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the peptidyl-glutamate ADP-deribosylation biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of AMPA glutamate receptor clustering Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of AMPA glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutamate secretion Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutamate secretion biological process from the curated GO Biological Process Annotations 2025 dataset. |
adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-glutamate transmembrane transport Gene SetFrom GO Biological Process Annotations 2025 genes participating in the L-glutamate transmembrane transport biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of glutamate uptake involved in transmission of nerve impulse Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of glutamate uptake involved in transmission of nerve impulse biological process from the curated GO Biological Process Annotations 2025 dataset. |
G protein-coupled glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the G protein-coupled glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
ionotropic glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the ionotropic glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of L-glutamate import across plasma membrane Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of L-glutamate import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutamate biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutamate biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
intracellular glutamate homeostasis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the intracellular glutamate homeostasis biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutamate catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutamate catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutamate metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutamate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of NMDA glutamate receptor activity Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of NMDA glutamate receptor activity biological process from the curated GO Biological Process Annotations 2025 dataset. |
AMPA glutamate receptor clustering Gene SetFrom GO Biological Process Annotations 2025 genes participating in the AMPA glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2025 dataset. |
NMDA glutamate receptor clustering Gene SetFrom GO Biological Process Annotations 2025 genes participating in the NMDA glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
NMDA selective glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the NMDA selective glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of glutamate uptake involved in transmission of nerve impulse Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of glutamate uptake involved in transmission of nerve impulse biological process from the curated GO Biological Process Annotations 2025 dataset. |
cellular response to L-glutamate Gene SetFrom GO Biological Process Annotations 2025 genes participating in the cellular response to L-glutamate biological process from the curated GO Biological Process Annotations 2025 dataset. |
AMPA selective glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the AMPA selective glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
phospholipase C-activating G protein-coupled glutamate receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the phospholipase C-activating G protein-coupled glutamate receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-glutamate import Gene SetFrom GO Biological Process Annotations 2025 genes participating in the L-glutamate import biological process from the curated GO Biological Process Annotations 2025 dataset. |
L-glutamate import across plasma membrane Gene SetFrom GO Biological Process Annotations 2025 genes participating in the L-glutamate import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset. |
response to L-glutamate Gene SetFrom GO Biological Process Annotations 2025 genes participating in the response to L-glutamate biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of glutamate secretion Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of glutamate secretion biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of L-glutamate import across plasma membrane Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of L-glutamate import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of glutamate metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of glutamate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutamate catabolic process via 2-hydroxyglutarate Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutamate catabolic process via 2-hydroxyglutarate biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of glutamate secretion, neurotransmission Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of glutamate secretion, neurotransmission biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of glutamate metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of glutamate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of AMPA glutamate receptor clustering Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of AMPA glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2025 dataset. |
proline catabolic process to glutamate Gene SetFrom GO Biological Process Annotations 2025 genes participating in the proline catabolic process to glutamate biological process from the curated GO Biological Process Annotations 2025 dataset. |
arginine catabolic process to glutamate Gene SetFrom GO Biological Process Annotations 2025 genes participating in the arginine catabolic process to glutamate biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of glutamate receptor clustering Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of L-glutamate import across plasma membrane Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of L-glutamate import across plasma membrane biological process from the curated GO Biological Process Annotations 2025 dataset. |
glutamate receptor clustering Gene SetFrom GO Biological Process Annotations 2025 genes participating in the glutamate receptor clustering biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of glutamate secretion Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of glutamate secretion biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of glutamate metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of glutamate metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
anaerobic glutamate catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the anaerobic glutamate catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
AMPA glutamate receptor complex Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the AMPA glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
ionotropic glutamate receptor complex Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the ionotropic glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
NMDA selective glutamate receptor complex Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the NMDA selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
clathrin-sculpted glutamate transport vesicle membrane Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the clathrin-sculpted glutamate transport vesicle membrane cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
kainate selective glutamate receptor complex Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the kainate selective glutamate receptor complex cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
clathrin-sculpted glutamate transport vesicle Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the clathrin-sculpted glutamate transport vesicle cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
ionotropic glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the ionotropic glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-glutamate transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-glutamate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
high-affinity L-glutamate transmembrane transporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the high-affinity L-glutamate transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
extracellularly glutamate-gated chloride channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the extracellularly glutamate-gated chloride channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate:sodium symporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
type 2 metabotropic glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the type 2 metabotropic glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
type 3 metabotropic glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the type 3 metabotropic glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate-gated receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate-gated receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
NMDA glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the NMDA glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate-gated calcium ion channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate-gated calcium ion channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
3-sulfino-L-alanine: proton, glutamate antiporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the 3-sulfino-L-alanine: proton, glutamate antiporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
aspartate:glutamate, proton antiporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the aspartate:glutamate, proton antiporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate formimidoyltransferase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate formimidoyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate dehydrogenase (NAD+) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate dehydrogenase (NAD+) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate dehydrogenase [NAD(P)+] activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate dehydrogenase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
type 8 metabotropic glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the type 8 metabotropic glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
type 5 metabotropic glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the type 5 metabotropic glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate-tRNA ligase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate-tRNA ligase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
NAD+-protein-glutamate ADP-ribosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the NAD+-protein-glutamate ADP-ribosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
NAD+-histone H2BE35 glutamate ADP-ribosyltransferase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the NAD+-histone H2BE35 glutamate ADP-ribosyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
kainate selective glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the kainate selective glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
AMPA glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the AMPA glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate-cysteine ligase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate-cysteine ligase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate-cysteine ligase catalytic subunit binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate-cysteine ligase catalytic subunit binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate 5-kinase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate 5-kinase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate-5-semialdehyde dehydrogenase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate-5-semialdehyde dehydrogenase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
extracellularly glutamate-gated ion channel activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the extracellularly glutamate-gated ion channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
adenylate cyclase inhibiting G protein-coupled glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the adenylate cyclase inhibiting G protein-coupled glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
group III metabotropic glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the group III metabotropic glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate-tRNA(Gln) ligase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate-tRNA(Gln) ligase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
N-acetyl-L-aspartate-L-glutamate ligase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the N-acetyl-L-aspartate-L-glutamate ligase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-glutamate N-acetyltransferase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-glutamate N-acetyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
L-glutamate uniporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the L-glutamate uniporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate racemase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate racemase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate decarboxylase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate decarboxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
citrate-L-glutamate ligase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the citrate-L-glutamate ligase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
cystine:glutamate antiporter activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the cystine:glutamate antiporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
glutamate-cysteine ligase regulator activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the glutamate-cysteine ligase regulator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
protein-N-terminal-glutamate acetyltransferase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the protein-N-terminal-glutamate acetyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
G protein-coupled glutamate receptor binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the G protein-coupled glutamate receptor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
para-aminobenzoyl-glutamate hydrolase activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the para-aminobenzoyl-glutamate hydrolase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
group II metabotropic glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the group II metabotropic glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
G protein-coupled glutamate receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the G protein-coupled glutamate receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Ionotropic glutamate receptor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Ionotropic glutamate receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
NMDA selective glutamate receptor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the NMDA selective glutamate receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
glutamate-cysteine ligase complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the glutamate-cysteine ligase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
AMPA glutamate receptor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the AMPA glutamate receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
clathrin-sculpted glutamate transport vesicle membrane Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the clathrin-sculpted glutamate transport vesicle membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
clathrin-sculpted glutamate transport vesicle Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the clathrin-sculpted glutamate transport vesicle cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Kainate selective glutamate receptor complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Kainate selective glutamate receptor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
AMPA glutamate receptor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the AMPA glutamate receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Ionotropic glutamate receptor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Ionotropic glutamate receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Glutamate synthase complex (NADPH) Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Glutamate synthase complex (NADPH) cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Glutamate synthase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Glutamate synthase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Glutamate decarboxylase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Glutamate decarboxylase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
glutamate-cysteine ligase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the glutamate-cysteine ligase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Glutamate dehydrogenase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Glutamate dehydrogenase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Kainate selective glutamate receptor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Kainate selective glutamate receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
glutamate-tRNA ligase complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the glutamate-tRNA ligase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
NMDA selective glutamate receptor complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the NMDA selective glutamate receptor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
clathrin-sculpted glutamate transport vesicle membrane Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the clathrin-sculpted glutamate transport vesicle membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
clathrin-sculpted glutamate transport vesicle Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the clathrin-sculpted glutamate transport vesicle cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Multiple sclerosis--Brain Glutamate Levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Multiple sclerosis--Brain Glutamate Levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Alanine, aspartate and glutamate metabolism Gene SetFrom KEGG Pathways 2026 proteins participating in the Alanine, aspartate and glutamate metabolism pathway from the KEGG Pathways 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. |
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. |
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. |
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. |
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. |
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. |