Name

CLN6 Gene

ceroid-lipofuscinosis, neuronal 6, late infantile, variant

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]

CLN5 Gene

ceroid-lipofuscinosis, neuronal 5

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]

CLN3 Gene

ceroid-lipofuscinosis, neuronal 3

This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

CLN9 Gene

ceroid-lipofuscinosis, neuronal 9

CLN8 Gene

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)

This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]

BFIS1 Gene

benign familial infantile convulsions

NYS5 Gene

Nystagmus 5, infantile periodic alternating

BFIS4 Gene

Convulsions, benign familial infantile, 4

PKDTS Gene

polycystic kidney disease, infantile severe, with tuberous sclerosis

BFIC2 Gene

Benign familial infantile convulsions-2

EIM Gene

Infantile myoclonic epilepsy

GLC3B Gene

glaucoma 3, primary infantile, B

IHPS2 Gene

Pyloric stenosis, infantile hypertrophic, 2

CMS1A1 Gene

myasthenia gravis, familial infantile, 1

IHPS5 Gene

Pyloric stenosis, infantile hypertrophic, 5

IHPS4 Gene

Pyloric stenosis, infantile hypertrophic, 4

IHPS3 Gene

Pyloric stenosis, infantile hypertrophic, 3

LOC101060086 Gene

cell cycle exit and neuronal differentiation protein 1-like

CEND1 Gene

cell cycle exit and neuronal differentiation 1

The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008]

LRRN4 Gene

leucine rich repeat neuronal 4

Predicted to be involved in long-term memory. Predicted to act upstream of or within visual learning. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

LRRN1 Gene

leucine rich repeat neuronal 1

Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in membrane. Predicted to be active in extracellular matrix and extracellular space. Biomarker of stomach cancer. [provided by Alliance of Genome Resources, Mar 2025]

NPTXR Gene

neuronal pentraxin receptor

This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008]

NRCAM Gene

neuronal cell adhesion molecule

Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

CHRNA4 Gene

cholinergic receptor, nicotinic, alpha 4 (neuronal)

This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

CHRNA5 Gene

cholinergic receptor, nicotinic, alpha 5 (neuronal)

The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]

CHRNA6 Gene

cholinergic receptor, nicotinic, alpha 6 (neuronal)

This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010]

CHRNA7 Gene

cholinergic receptor, nicotinic, alpha 7 (neuronal)

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

CHRNA2 Gene

cholinergic receptor, nicotinic, alpha 2 (neuronal)

Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]

CHRNA3 Gene

cholinergic receptor, nicotinic, alpha 3 (neuronal)

This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

CHRNA9 Gene

cholinergic receptor, nicotinic, alpha 9 (neuronal)

This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012]

ENO2 Gene

enolase 2 (gamma, neuronal)

This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. [provided by RefSeq, Jul 2008]

LRRN3 Gene

leucine rich repeat neuronal 3

Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in membrane. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

LRRN2 Gene

leucine rich repeat neuronal 2

The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]

NREP Gene

neuronal regeneration related protein

Predicted to be involved in axon regeneration; regulation of neuron differentiation; and regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

NEGR1 Gene

neuronal growth regulator 1

Predicted to be involved in cell adhesion and regulation of synapse assembly. Predicted to act upstream of or within several processes, including cholesterol homeostasis; lipid droplet formation; and nervous system development. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in postsynaptic density. [provided by Alliance of Genome Resources, Mar 2025]

CDH2 Gene

cadherin 2, type 1, N-cadherin (neuronal)

This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell adhesion molecule and glycoprotein. This protein plays a role in the establishment of left-right asymmetry, development of the nervous system and the formation of cartilage and bone. [provided by RefSeq, Nov 2015]

IPOX Gene

Intestinal pseudoobstruction, neuronal, primary idiopathic

NPAS4 Gene

neuronal PAS domain protein 4

NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional regulators, which are involved in a wide range of physiologic and developmental events (Ooe et al., 2004 [PubMed 14701734]).[supplied by OMIM, Mar 2008]

NPAS3 Gene

neuronal PAS domain protein 3

This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and cognitive disability. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

NPAS2 Gene

neuronal PAS domain protein 2

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. [provided by RefSeq, Jul 2008]

NPAS1 Gene

neuronal PAS domain protein 1

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008]

NOS1 Gene

nitric oxide synthase 1 (neuronal)

The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]

NEUROD2 Gene

neuronal differentiation 2

This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008]

NEUROD1 Gene

neuronal differentiation 1

This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]

NEUROD6 Gene

neuronal differentiation 6

This gene is a member of the NEUROD family of basic helix-loop-helix transcription factors. The encoded protein may be involved in the development and differentiation of the nervous system. [provided by RefSeq, Nov 2012]

NEUROD4 Gene

neuronal differentiation 4

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and E-box binding activity. Predicted to be involved in neuron differentiation; positive regulation of cell differentiation; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within Notch signaling pathway; cell fate commitment; and neurogenesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

NCS1 Gene

neuronal calcium sensor 1

This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ANK2 Gene

ankyrin 2, neuronal

This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]

CHRNA10 Gene

cholinergic receptor, nicotinic, alpha 10 (neuronal)

Predicted to enable acetylcholine-gated monoatomic cation-selective channel activity. Acts upstream of or within positive regulation of cytosolic calcium ion concentration. Predicted to be located in membrane. Predicted to be part of transmembrane transporter complex. Predicted to be active in cholinergic synapse; neuron projection; and postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Mar 2025]

CHRNB3 Gene

cholinergic receptor, nicotinic, beta 3 (neuronal)

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010]

CHRNB2 Gene

cholinergic receptor, nicotinic, beta 2 (neuronal)

Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]

CHRNB4 Gene

cholinergic receptor, nicotinic, beta 4 (neuronal)

This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]

NPTX2 Gene

neuronal pentraxin II

This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD. [provided by RefSeq, Feb 2009]

NPTX1 Gene

neuronal pentraxin I

NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008]

INA Gene

internexin neuronal intermediate filament protein, alpha

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009]

NOS1AP Gene

nitric oxide synthase 1 (neuronal) adaptor protein

This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009]

NSMF Gene

NMDA receptor synaptonuclear signaling and neuronal migration factor

The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

LRRTM4 Gene

leucine rich repeat transmembrane neuronal 4

Predicted to enable heparan sulfate proteoglycan binding activity. Predicted to be involved in regulation of synapse assembly. Predicted to act upstream of or within AMPA glutamate receptor clustering; positive regulation of synapse assembly; and regulation of presynaptic membrane organization. Predicted to be located in postsynaptic membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in several cellular components, including GABA-ergic synapse; photoreceptor ribbon synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025]

LRRTM1 Gene

leucine rich repeat transmembrane neuronal 1

Predicted to be involved in regulation of postsynaptic density assembly and regulation of presynapse assembly. Predicted to act upstream of or within several processes, including long-term synaptic potentiation; negative regulation of receptor internalization; and positive regulation of synapse assembly. Located in endoplasmic reticulum and growth cone. Is active in GABA-ergic synapse and postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Mar 2025]

LRRTM3 Gene

leucine rich repeat transmembrane neuronal 3

Involved in regulation of presynapse assembly. Acts upstream of or within positive regulation of amyloid-beta formation. Is active in glutamatergic synapse. [provided by Alliance of Genome Resources, Mar 2025]

LRRTM2 Gene

leucine rich repeat transmembrane neuronal 2

Predicted to enable neurexin family protein binding activity. Predicted to be involved in regulation of postsynaptic density assembly. Predicted to act upstream of or within several processes, including long-term synaptic potentiation; negative regulation of receptor internalization; and positive regulation of synapse assembly. Is active in GABA-ergic synapse and postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Mar 2025]

CEND1P1 Gene

cell cycle exit and neuronal differentiation 1 pseudogene 1

CEND1P2 Gene

cell cycle exit and neuronal differentiation 1 pseudogene 2

NYAP1 Gene

neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1

Predicted to be involved in neuron projection morphogenesis and phosphatidylinositol 3-kinase/protein kinase B signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

NYAP2 Gene

neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2

Predicted to be involved in neuron projection morphogenesis and phosphatidylinositol 3-kinase/protein kinase B signal transduction. [provided by Alliance of Genome Resources, Mar 2025]

CPNE6 Gene

copine VI (neuronal)

This gene encodes a member of the copine family. Members of this family are calcium-dependent, phospholipid-binding proteins with C2 domains, two calcium- and phospholipid-binding domains. Through their domain structure and lipid binding capabilities, these proteins may play a role in membrane trafficking. This protein is thought to be brain-specific and has a domain structure of two N-terminal C2 domains and one von Willebrand factor A domain. It may have a role in synaptic plasticity. [provided by RefSeq, Jul 2013]

NGEF Gene

neuronal guanine nucleotide exchange factor

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in ephrin receptor signaling pathway; regulation of actin cytoskeleton organization; and regulation of synapse organization. Predicted to be located in cytosol. Predicted to be active in glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Mar 2025]

SLC1A1 Gene

solute 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]

TMOD2 Gene

tropomodulin 2 (neuronal)

This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2008]

NSG2 Gene

neuronal vesicle trafficking associated 2

Predicted to enable clathrin light chain binding activity. Predicted to be involved in clathrin coat assembly and endosomal transport. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

Infantile Neuronal Ceroid Lipofuscinosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Neuronal Ceroid Lipofuscinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ceroid lipofuscinosis, neuronal 1, infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ceroid lipofuscinosis, neuronal 1, infantile from the curated CTD Gene-Disease Associations dataset.

variant late infantile neuronal ceroid lipofuscinosis. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease variant late infantile neuronal ceroid lipofuscinosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Late-infantile neuronal ceroid lipofuscinosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Late-infantile neuronal ceroid lipofuscinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ceroid lipofuscinosis, neuronal, 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis, neuronal, 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis neuronal 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis neuronal 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis neuronal 4B autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis neuronal 4B autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Juvenile neuronal ceroid lipofuscinosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Juvenile neuronal ceroid lipofuscinosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis, neuronal, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis, neuronal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis neuronal 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis neuronal 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis neuronal 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis neuronal 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis neuronal 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis neuronal 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis neuronal 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis neuronal 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis neuronal 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis neuronal 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid Lipofuscinosis, Neuronal, 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ceroid Lipofuscinosis, Neuronal, 10 from the curated CTD Gene-Disease Associations dataset.

Ceroid lipofuscinosis, neuronal 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ceroid lipofuscinosis, neuronal 8 from the curated CTD Gene-Disease Associations dataset.

Ceroid lipofuscinosis, neuronal 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ceroid lipofuscinosis, neuronal 5 from the curated CTD Gene-Disease Associations dataset.

Ceroid Lipofuscinosis, Neuronal, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ceroid Lipofuscinosis, Neuronal, 2 from the curated CTD Gene-Disease Associations dataset.

Ceroid Lipofuscinosis, Neuronal, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ceroid Lipofuscinosis, Neuronal, 1 from the curated CTD Gene-Disease Associations dataset.

Ceroid Lipofuscinosis, Neuronal, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ceroid Lipofuscinosis, Neuronal, 6 from the curated CTD Gene-Disease Associations dataset.

Ceroid Lipofuscinosis, Neuronal, 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ceroid Lipofuscinosis, Neuronal, 7 from the curated CTD Gene-Disease Associations dataset.

Ceroid lipofuscinosis, neuronal 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ceroid lipofuscinosis, neuronal 9 from the curated CTD Gene-Disease Associations dataset.

neuronal ceroid lipofuscinosis Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease neuronal ceroid lipofuscinosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

neuronal ceroid lipofuscinosis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease neuronal ceroid lipofuscinosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Ceroid-lipofuscinosis neuronal protein 6 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ceroid-lipofuscinosis neuronal protein 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ceroid-lipofuscinosis neuronal protein 5 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ceroid-lipofuscinosis neuronal protein 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

?ceroid lipofuscinosis, neuronal, 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?ceroid lipofuscinosis, neuronal, 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

ceroid lipofuscinosis, neuronal, kufs type, adult onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, kufs type, adult onset phenotype from the curated OMIM Gene-Disease Associations dataset.

ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant phenotype from the curated OMIM Gene-Disease Associations dataset.

ceroid lipofuscinosis, neuronal, 4, parry type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, 4, parry type phenotype from the curated OMIM Gene-Disease Associations dataset.

ceroid lipofuscinosis, neuronal, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

ceroid lipofuscinosis, neuronal, 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

ceroid lipofuscinosis, neuronal, 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

ceroid lipofuscinosis, neuronal, 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

ceroid lipofuscinosis, neuronal, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ceroid lipofuscinosis, neuronal, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

ceroid lipofuscinosis, neuronal, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

ceroid lipofuscinosis, neuronal, 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

ceroid lipofuscinosis, neuronal, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

ceroid lipofuscinosis, neuronal, 13, kufs type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, 13, kufs type phenotype from the curated OMIM Gene-Disease Associations dataset.

Juvenile Neuronal Ceroid Lipofuscinosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Juvenile Neuronal Ceroid Lipofuscinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adult Neuronal Ceroid Lipofuscinosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adult Neuronal Ceroid Lipofuscinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neuronal ceroid lipofuscinosis Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neuronal ceroid lipofuscinosis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 6A Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neuronal ceroid lipofuscinosis 6A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neuronal ceroid lipofuscinosis 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 7 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neuronal ceroid lipofuscinosis 7 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 11 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neuronal ceroid lipofuscinosis 11 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 5 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neuronal ceroid lipofuscinosis 5 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 10 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neuronal ceroid lipofuscinosis 10 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 3 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neuronal ceroid lipofuscinosis 3 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 8 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neuronal ceroid lipofuscinosis 8 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 4 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Neuronal ceroid lipofuscinosis 4 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis Gene Set

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

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

Neuronal ceroid lipofuscinosis 3 Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 10 Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 11 Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 7 Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 13 Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 5 Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 8 northern epilepsy variant in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 2 Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 6A Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 6A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 1 Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 8 Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 4 Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 6B Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 6B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis 9 Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal ceroid lipofuscinosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neuronal ceroid lipofuscinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neuronal ceroid lipofuscinosis 8 northern epilepsy variant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neuronal Ceroid-Lipofuscinosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neuronal Ceroid-Lipofuscinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Juvenile neuronal ceroid lipofuscinosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Juvenile neuronal ceroid lipofuscinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Adult neuronal ceroid lipofuscinosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Adult neuronal ceroid lipofuscinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile neuronal ceroid lipofuscinosis_Brain_GSE6678 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Infantile neuronal ceroid lipofuscinosis_Brain_GSE6678 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Late-Infantile Neuronal Ceroid Lipfuscinosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Late-Infantile Neuronal Ceroid Lipfuscinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ceroid Lipofuscinosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ceroid Lipofuscinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ceroid lipofuscinosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ceroid lipofuscinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neuronal Ceroid-Lipofuscinoses Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuronal Ceroid-Lipofuscinoses from the curated CTD Gene-Disease Associations dataset.

neuronal ceroid-lipofuscinoses Gene Set

From GAD Gene-Disease Associations

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

Neuronal Ceroid-Lipofuscinoses Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Neuronal Ceroid-Lipofuscinoses phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Neuronal Ceroid Lipofuscinosies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neuronal Ceroid Lipofuscinosies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma Gene Set

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

genes co-occuring with the disease Desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

lipofuscinosis Gene Set

From GeneRIF Biological Term Annotations

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

lipofuscinosis Gene Set

From MPO Gene-Phenotype Associations

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

Lipofuscinosis Gene Set

From DisGeNET Gene-Disease Associations

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

lipofuscinosis Gene Set

From MGI Mouse Phenotype Associations 2023

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

ceroid Gene Set

From GeneRIF Biological Term Annotations

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

lissencephaly gene (lis1) in neuronal migration and development Gene Set

From Biocarta Pathways

proteins participating in the lissencephaly gene (lis1) in neuronal migration and development pathway from the Biocarta Pathways dataset.

role of erk5 in neuronal survival pathway Gene Set

From Biocarta Pathways

proteins participating in the role of erk5 in neuronal survival pathway pathway from the Biocarta Pathways dataset.

Intestinal pseudoobstruction neuronal chronic idiopathic X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intestinal pseudoobstruction neuronal chronic idiopathic X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

neuronal cell body Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the neuronal cell body cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

neuronal cell body membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the neuronal cell body membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

neuronal ribonucleoprotein granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the neuronal ribonucleoprotein granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

neuronal cell body Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

neuronal ribonucleoprotein granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

intestinal neuronal dysplasia type b (ind b) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease intestinal neuronal dysplasia type b (ind b) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neuronal hyperexcitability Gene Set

From GAD Gene-Disease Associations

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

neuronal no synthase (nos1) gene polymorphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neuronal no synthase (nos1) gene polymorphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ischemic neuronal cell death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ischemic neuronal cell death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neuronal Gene Set

From GeneRIF Biological Term Annotations

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

regulation of short-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of short-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2015 dataset.

neuronal action potential Gene Set

From GO Biological Process Annotations 2015

genes participating in the neuronal action potential biological process from the curated GO Biological Process Annotations 2015 dataset.

gonadotrophin-releasing hormone neuronal migration to the hypothalamus Gene Set

From GO Biological Process Annotations 2015

genes participating in the gonadotrophin-releasing hormone neuronal migration to the hypothalamus biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of neuronal action potential Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of neuronal action potential biological process from the curated GO Biological Process Annotations 2015 dataset.

neuronal ion channel clustering Gene Set

From GO Biological Process Annotations 2015

genes participating in the neuronal ion channel clustering biological process from the curated GO Biological Process Annotations 2015 dataset.

neuronal signal transduction Gene Set

From GO Biological Process Annotations 2015

genes participating in the neuronal signal transduction biological process from the curated GO Biological Process Annotations 2015 dataset.

neuronal-glial interaction involved in cerebral cortex radial glia guided migration Gene Set

From GO Biological Process Annotations 2015

genes participating in the neuronal-glial interaction involved in cerebral cortex radial glia guided migration biological process from the curated GO Biological Process Annotations 2015 dataset.

commitment of neuronal cell to specific neuron type in forebrain Gene Set

From GO Biological Process Annotations 2015

genes participating in the commitment of neuronal cell to specific neuron type in forebrain biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of long-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of long-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2015 dataset.

neuronal action potential propagation Gene Set

From GO Biological Process Annotations 2015

genes participating in the neuronal action potential propagation biological process from the curated GO Biological Process Annotations 2015 dataset.

neuronal stem cell maintenance Gene Set

From GO Biological Process Annotations 2015

genes participating in the neuronal stem cell maintenance biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of long-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of long-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of neuronal signal transduction Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of neuronal signal transduction biological process from the curated GO Biological Process Annotations 2015 dataset.

neuronal stem cell division Gene Set

From GO Biological Process Annotations 2015

genes participating in the neuronal stem cell division biological process from the curated GO Biological Process Annotations 2015 dataset.

cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration Gene Set

From GO Biological Process Annotations 2015

genes participating in the cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2015 dataset.

neuronal cell body Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the neuronal cell body cellular component from the curated GO Cellular Component Annotations 2015 dataset.

neuronal cell body membrane Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the neuronal cell body membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset.

neuronal postsynaptic density Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the neuronal postsynaptic density cellular component from the curated GO Cellular Component Annotations 2015 dataset.

neuronal ribonucleoprotein granule Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the neuronal ribonucleoprotein granule cellular component from the curated GO Cellular Component Annotations 2015 dataset.

white matter neuronal heterotopia Gene Set

From HPO Gene-Disease Associations

genes associated with the white matter neuronal heterotopia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of neuronal migration Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of neuronal migration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

increased neuronal autofluorescent lipopigment Gene Set

From HPO Gene-Disease Associations

genes associated with the increased neuronal autofluorescent lipopigment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

neuronal loss in the cerebral cortex Gene Set

From HPO Gene-Disease Associations

genes associated with the neuronal loss in the cerebral cortex phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

neuronal loss in basal ganglia Gene Set

From HPO Gene-Disease Associations

genes associated with the neuronal loss in basal ganglia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

neuronal loss in central nervous system Gene Set

From HPO Gene-Disease Associations

genes associated with the neuronal loss in central nervous system phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, C-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Neuronal migration protein doublecortin, chordata Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Neuronal migration protein doublecortin, chordata protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dopamine/cAMP-regulated neuronal phosphoprotein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dopamine/cAMP-regulated neuronal phosphoprotein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Neuronal protein 3.1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Neuronal protein 3.1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cell cycle exit/neuronal differentiation protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cell cycle exit/neuronal differentiation protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1/2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1/2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

premature neuronal precursor differentiation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the premature neuronal precursor differentiation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

neuronal intranuclear inclusions Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the neuronal intranuclear inclusions phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased neuronal stem cell self-renewal Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased neuronal stem cell self-renewal phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased susceptibility to neuronal excitotoxicity Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased susceptibility to neuronal excitotoxicity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal neuronal stem cell self-renewal Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal neuronal stem cell self-renewal phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal neuronal stem cell physiology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal neuronal stem cell physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal retinal neuronal layer morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal neuronal layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased neuronal stem cell self-renewal Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased neuronal stem cell self-renewal phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal neuronal stem cell morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal neuronal stem cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased susceptibility to neuronal excitotoxicity Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased susceptibility to neuronal excitotoxicity phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal neuronal migration Gene Set

From MPO Gene-Phenotype Associations

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

neuronal cytoplasmic inclusions Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the neuronal cytoplasmic inclusions phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased neuronal precursor cell number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased neuronal precursor cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent neuronal precursor cells Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent neuronal precursor cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal neuronal precursor proliferation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal neuronal precursor proliferation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal neuronal precursor cell number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal neuronal precursor cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased neuronal precursor cell number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased neuronal precursor cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

intestinal pseudoobstruction, neuronal Gene Set

From OMIM Gene-Disease Associations

genes associated with the intestinal pseudoobstruction, neuronal phenotype from the curated OMIM Gene-Disease Associations dataset.

neuronal Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term neuronal in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

Lissencephaly gene (LIS1) in neuronal migration and development Gene Set

From PID Pathways

proteins participating in the Lissencephaly gene (LIS1) in neuronal migration and development pathway from the PID Pathways dataset.

Neuronal System Gene Set

From Reactome Pathways 2014

proteins participating in the Neuronal System pathway from the Reactome Pathways dataset.

H3K4me3_H1 Derived Neuronal Progenitor Cultured Cells Gene Set

From Roadmap Epigenomics Histone Modification Site Profiles

genes with high histone modification abundance in the H3K4me3_H1 Derived Neuronal Progenitor Cultured Cells histone modification site profile from the Roadmap Epigenomics Histone Modification Site Profiles dataset.

H3K27ac_H1 Derived Neuronal Progenitor Cultured Cells Gene Set

From Roadmap Epigenomics Histone Modification Site Profiles

genes with high histone modification abundance in the H3K27ac_H1 Derived Neuronal Progenitor Cultured Cells histone modification site profile from the Roadmap Epigenomics Histone Modification Site Profiles dataset.

neuronal cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue neuronal cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

non-neuronal cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue non-neuronal cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Neuronal Intestinal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neuronal Intestinal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neuronal Choristoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neuronal Choristoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neuronal Heterotopia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neuronal Heterotopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neuronal Intranuclear Inclusion Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neuronal Intranuclear Inclusion Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neuronal Intestinal Pseudoobstruction Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neuronal Intestinal Pseudoobstruction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neuronal Loss In Central Nervous System Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Neuronal Loss In Central Nervous System in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Neuronal Loss In The Cerebral Cortex Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Neuronal Loss In The Cerebral Cortex in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Increased Neuronal Autofluorescent Lipopigment Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Increased Neuronal Autofluorescent Lipopigment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Neuronal Loss In Basal Ganglia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Neuronal Loss In Basal Ganglia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

regulation of short-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of short-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2023 dataset.

neuronal dense core vesicle exocytosis Gene Set

From GO Biological Process Annotations 2023

genes participating in the neuronal dense core vesicle exocytosis biological process from the curated GO Biological Process Annotations 2023 dataset.

gonadotrophin-releasing hormone neuronal migration to the hypothalamus Gene Set

From GO Biological Process Annotations 2023

genes participating in the gonadotrophin-releasing hormone neuronal migration to the hypothalamus biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of long-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of long-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2023 dataset.

anterograde neuronal dense core vesicle transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the anterograde neuronal dense core vesicle transport biological process from the curated GO Biological Process Annotations 2023 dataset.

retrograde neuronal dense core vesicle transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the retrograde neuronal dense core vesicle transport biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of long-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of long-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2023 dataset.

neuronal action potential Gene Set

From GO Biological Process Annotations 2023

genes participating in the neuronal action potential biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of neuronal action potential Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of neuronal action potential biological process from the curated GO Biological Process Annotations 2023 dataset.

neuronal-glial interaction involved in cerebral cortex radial glia guided migration Gene Set

From GO Biological Process Annotations 2023

genes participating in the neuronal-glial interaction involved in cerebral cortex radial glia guided migration biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of neuronal signal transduction Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of neuronal signal transduction biological process from the curated GO Biological Process Annotations 2023 dataset.

neuronal-glial interaction involved in hindbrain glial-mediated radial cell migration Gene Set

From GO Biological Process Annotations 2023

genes participating in the neuronal-glial interaction involved in hindbrain glial-mediated radial cell migration biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of neuronal action potential Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of neuronal action potential biological process from the curated GO Biological Process Annotations 2023 dataset.

neuronal action potential propagation Gene Set

From GO Biological Process Annotations 2023

genes participating in the neuronal action potential propagation biological process from the curated GO Biological Process Annotations 2023 dataset.

neuronal stem cell division Gene Set

From GO Biological Process Annotations 2023

genes participating in the neuronal stem cell division biological process from the curated GO Biological Process Annotations 2023 dataset.

neuronal ion channel clustering Gene Set

From GO Biological Process Annotations 2023

genes participating in the neuronal ion channel clustering biological process from the curated GO Biological Process Annotations 2023 dataset.

commitment of neuronal cell to specific neuron type in forebrain Gene Set

From GO Biological Process Annotations 2023

genes participating in the commitment of neuronal cell to specific neuron type in forebrain biological process from the curated GO Biological Process Annotations 2023 dataset.

neuronal dense core vesicle Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the neuronal dense core vesicle cellular component from the curated GO Cellular Component Annotations 2023 dataset.

neuronal ribonucleoprotein granule Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the neuronal ribonucleoprotein granule cellular component from the curated GO Cellular Component Annotations 2023 dataset.

extrinsic component of neuronal dense core vesicle membrane Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the extrinsic component of neuronal dense core vesicle membrane cellular component from the curated GO Cellular Component Annotations 2023 dataset.

neuronal dense core vesicle lumen Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the neuronal dense core vesicle lumen cellular component from the curated GO Cellular Component Annotations 2023 dataset.

neuronal dense core vesicle membrane Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the neuronal dense core vesicle membrane cellular component from the curated GO Cellular Component Annotations 2023 dataset.

abnormal retina neuronal layer morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal retina neuronal layer morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal neuronal migration Gene Set

From MGI Mouse Phenotype Associations 2023

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

decreased neuronal precursor cell number Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased neuronal precursor cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased susceptibility to neuronal excitotoxicity Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased susceptibility to neuronal excitotoxicity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal neuronal precursor proliferation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal neuronal precursor proliferation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased neuronal precursor cell number Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased neuronal precursor cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

neuronal intranuclear inclusions Gene Set

From MGI Mouse Phenotype Associations 2023

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

decreased susceptibility to neuronal excitotoxicity Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased susceptibility to neuronal excitotoxicity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent neuronal precursor cells Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent neuronal precursor cells phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased neuronal precursor proliferation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased neuronal precursor proliferation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

premature neuronal precursor differentiation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the premature neuronal precursor differentiation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal neuronal precursor cell migration Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal neuronal precursor cell migration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal neuronal precursor cell number Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal neuronal precursor cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal neuronal stem cell morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal neuronal stem cell morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased neuronal stem cell self-renewal Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased neuronal stem cell self-renewal phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

neuronal cytoplasmic inclusions Gene Set

From MGI Mouse Phenotype Associations 2023

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

increased neuronal stem cell self-renewal Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased neuronal stem cell self-renewal phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal neuronal stem cell physiology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal neuronal stem cell physiology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased neuronal precursor proliferation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased neuronal precursor proliferation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Human - Motor Cortex - Class - Non-neuronal cell Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Motor Cortex - Class - Non-neuronal cell cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Mouse - Motor Cortex - Class - Non-neuronal cell Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Mouse - Motor Cortex - Class - Non-neuronal cell cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Human - Heart - L1 - Neuronal Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Heart - L1 - Neuronal cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Human - Heart - L2 - Neuronal Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Heart - L2 - Neuronal cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

neuronal dense core vesicle lumen Gene Set

From SynGO Synaptic Gene Annotations

genes associated with the synaptic term neuronal dense core vesicle lumen from the SynGO Synaptic Gene Annotations dataset.

neuronal dense core vesicle Gene Set

From SynGO Synaptic Gene Annotations

genes associated with the synaptic term neuronal dense core vesicle from the SynGO Synaptic Gene Annotations dataset.

extrinsic component of neuronal dense core vesicle membrane Gene Set

From SynGO Synaptic Gene Annotations

genes associated with the synaptic term extrinsic component of neuronal dense core vesicle membrane from the SynGO Synaptic Gene Annotations dataset.

integral component of neuronal dense core vesicle membrane Gene Set

From SynGO Synaptic Gene Annotations

genes associated with the synaptic term integral component of neuronal dense core vesicle membrane from the SynGO Synaptic Gene Annotations dataset.

Neuronal-like cell_Spinal cord_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Neuronal-like cell_Spinal cord_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Neuronal progenitor cell_Brain_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Neuronal progenitor cell_Brain_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Pan-neuronal cell_Brain_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Pan-neuronal cell_Brain_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Neuronal progenitor cell_Brain_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Neuronal progenitor cell_Brain_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Neuronal stem cell_Brain_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Neuronal stem cell_Brain_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Pan-neuronal cell_Brain_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Pan-neuronal cell_Brain_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Adult neuronal stem cell_Brain_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Adult neuronal stem cell_Brain_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Adult neuronal stem cell_Brain_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Adult neuronal stem cell_Brain_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Neuronal intermediate progenitor cell_Brain_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Neuronal intermediate progenitor cell_Brain_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Pan-neuronal cell_Prefrontal cortex_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Pan-neuronal cell_Prefrontal cortex_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Late neuronal progenitor cell_Brain_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Late neuronal progenitor cell_Brain_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Suprachiasmatic neuronal cell_Eye_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Suprachiasmatic neuronal cell_Eye_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Neuronal glial cell_Heart_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Neuronal glial cell_Heart_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Pan-neuronal cell_Enteric neural crest_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Pan-neuronal cell_Enteric neural crest_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Neuronal Cell (Axon Only)_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Neuronal Cell (Axon Only)_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Neuronal progenitor cell_Undefined_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Neuronal progenitor cell_Undefined_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Phosphodiesterases in neuronal function Gene Set

From WikiPathways Pathways 2024

proteins participating in the Phosphodiesterases in neuronal function pathway from the WikiPathways Pathways 2024 dataset.

Complement system in neuronal development and plasticity Gene Set

From WikiPathways Pathways 2024

proteins participating in the Complement system in neuronal development and plasticity pathway from the WikiPathways Pathways 2024 dataset.

Cell lineage map for neuronal differentiation Gene Set

From WikiPathways Pathways 2024

proteins participating in the Cell lineage map for neuronal differentiation pathway from the WikiPathways Pathways 2024 dataset.

Diseases of the neuronal system Gene Set

From Reactome Pathways 2024

proteins participating in the Diseases of the neuronal system pathway from the Reactome Pathways 2024 dataset.

FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes Gene Set

From Reactome Pathways 2024

proteins participating in the FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes pathway from the Reactome Pathways 2024 dataset.

MECP2 regulates neuronal receptors and channels Gene Set

From Reactome Pathways 2024

proteins participating in the MECP2 regulates neuronal receptors and channels pathway from the Reactome Pathways 2024 dataset.

MECP2 regulates transcription of neuronal ligands Gene Set

From Reactome Pathways 2024

proteins participating in the MECP2 regulates transcription of neuronal ligands pathway from the Reactome Pathways 2024 dataset.

Negative regulation of NMDA receptor-mediated neuronal transmission Gene Set

From Reactome Pathways 2024

proteins participating in the Negative regulation of NMDA receptor-mediated neuronal transmission pathway from the Reactome Pathways 2024 dataset.

Neuronal System Gene Set

From Reactome Pathways 2024

proteins participating in the Neuronal System pathway from the Reactome Pathways 2024 dataset.

regulation of short-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of short-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2025 dataset.

neuronal dense core vesicle exocytosis Gene Set

From GO Biological Process Annotations 2025

genes participating in the neuronal dense core vesicle exocytosis biological process from the curated GO Biological Process Annotations 2025 dataset.

gonadotrophin-releasing hormone neuronal migration to the hypothalamus Gene Set

From GO Biological Process Annotations 2025

genes participating in the gonadotrophin-releasing hormone neuronal migration to the hypothalamus biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of long-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of long-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2025 dataset.

anterograde neuronal dense core vesicle transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the anterograde neuronal dense core vesicle transport biological process from the curated GO Biological Process Annotations 2025 dataset.

retrograde neuronal dense core vesicle transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the retrograde neuronal dense core vesicle transport biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of long-term neuronal synaptic plasticity Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of long-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2025 dataset.

neuronal action potential Gene Set

From GO Biological Process Annotations 2025

genes participating in the neuronal action potential biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of neuronal action potential Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of neuronal action potential biological process from the curated GO Biological Process Annotations 2025 dataset.

neuronal-glial interaction involved in cerebral cortex radial glia guided migration Gene Set

From GO Biological Process Annotations 2025

genes participating in the neuronal-glial interaction involved in cerebral cortex radial glia guided migration biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of neuronal signal transduction Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of neuronal signal transduction biological process from the curated GO Biological Process Annotations 2025 dataset.

neuronal-glial interaction involved in hindbrain glial-mediated radial cell migration Gene Set

From GO Biological Process Annotations 2025

genes participating in the neuronal-glial interaction involved in hindbrain glial-mediated radial cell migration biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of neuronal action potential Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of neuronal action potential biological process from the curated GO Biological Process Annotations 2025 dataset.

neuronal action potential propagation Gene Set

From GO Biological Process Annotations 2025

genes participating in the neuronal action potential propagation biological process from the curated GO Biological Process Annotations 2025 dataset.

neuronal stem cell division Gene Set

From GO Biological Process Annotations 2025

genes participating in the neuronal stem cell division biological process from the curated GO Biological Process Annotations 2025 dataset.

neuronal ion channel clustering Gene Set

From GO Biological Process Annotations 2025

genes participating in the neuronal ion channel clustering biological process from the curated GO Biological Process Annotations 2025 dataset.

commitment of neuronal cell to specific neuron type in forebrain Gene Set

From GO Biological Process Annotations 2025

genes participating in the commitment of neuronal cell to specific neuron type in forebrain biological process from the curated GO Biological Process Annotations 2025 dataset.

commitment of multipotent stem cells to neuronal lineage in forebrain Gene Set

From GO Biological Process Annotations 2025

genes participating in the commitment of multipotent stem cells to neuronal lineage in forebrain biological process from the curated GO Biological Process Annotations 2025 dataset.

neuronal dense core vesicle Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the neuronal dense core vesicle cellular component from the curated GO Cellular Component Annotations 2025 dataset.

neuronal ribonucleoprotein granule Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the neuronal ribonucleoprotein granule cellular component from the curated GO Cellular Component Annotations 2025 dataset.

neuronal dense core vesicle lumen Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the neuronal dense core vesicle lumen cellular component from the curated GO Cellular Component Annotations 2025 dataset.

Neuronal intranuclear inclusion disease Gene Set

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

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

Multinodular and vacuolating neuronal tumor Gene Set

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

genes co-occuring with the disease Multinodular and vacuolating neuronal tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neuronal intestinal dysplasia type B Gene Set

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

genes co-occuring with the disease Neuronal intestinal dysplasia type B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

non-neuronal cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue non-neuronal cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Neuronal cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Neuronal cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Neuronal cell body Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Neuronal cell body cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Neuronal ribonucleoprotein granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Neuronal ribonucleoprotein granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Neuronal cell body membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Neuronal cell body membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Neuronal dense core vesicle Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Neuronal dense core vesicle cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Neuronal dense core vesicle lumen Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Neuronal dense core vesicle lumen cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Neuronal cell body Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

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

Neuronal ribonucleoprotein granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

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

Neuronal dense core vesicle Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

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

Neuronal cell body membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

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

Abnormality of neuronal migration Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Abnormality of neuronal migration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

CAMSAP1-related neuronal migration disorder Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the CAMSAP1-related neuronal migration disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Benign familial neonatal-infantile seizures Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Benign familial neonatal-infantile seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile convulsions and paroxysmal choreoathetosis, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation with infantile enterocolitis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation with infantile enterocolitis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Galactosialidosis, late infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Galactosialidosis, late infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia infantile with progressive external ophthalmoplegia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia infantile with progressive external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

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

Epileptic encephalopathy, early infantile, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 23 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycogen storage disease type II, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycogen storage disease type II, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked infantile nystagmus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked infantile nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile myofibromatosis 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile myofibromatosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amish infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile liver failure syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile liver failure syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile liver failure syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile liver failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile nephronophthisis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile nephronophthisis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Galactosialidosis, early infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Galactosialidosis, early infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyloric stenosis, infantile hypertrophic, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyloric stenosis, infantile hypertrophic, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sandhoff disease, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sandhoff disease, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile hypophosphatasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile hypophosphatasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile GM1 gangliosidosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile GM1 gangliosidosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile neuroaxonal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile neuroaxonal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile-onset ascending hereditary spastic paralysis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile-onset ascending hereditary spastic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Metachromatic leukodystrophy, late infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Metachromatic leukodystrophy, late infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile neuroaxonal neurodegeneration with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile neuroaxonal neurodegeneration with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polycystic kidney disease, infantile type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polycystic kidney disease, infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Familial infantile myasthenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Familial infantile myasthenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Liver failure acute infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Liver failure acute infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 28 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 24 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 25 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 26 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 26 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 27 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile Parkinsonism-dystonia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile Parkinsonism-dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sting-associated vasculopathy, infantile-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sting-associated vasculopathy, infantile-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sialic acid storage disease, severe infantile type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune disease, multisystem, infantile-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune disease, multisystem, infantile-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myoclonic epilepsy, familial infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myoclonic epilepsy, familial infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile cortical hyperostosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile cortical hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Parkinsonism-Dystonia, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parkinsonism-Dystonia, Infantile from the curated CTD Gene-Disease Associations dataset.

Epileptic Encephalopathy, Early Infantile, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 4 from the curated CTD Gene-Disease Associations dataset.

Epileptic Encephalopathy, Early Infantile, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 1 from the curated CTD Gene-Disease Associations dataset.

Epileptic Encephalopathy, Early Infantile, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 2 from the curated CTD Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Myasthenia, Familial Infantile, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myasthenia, Familial Infantile, 1 from the curated CTD Gene-Disease Associations dataset.

Hereditary spastic paralysis, infantile onset ascending Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary spastic paralysis, infantile onset ascending from the curated CTD Gene-Disease Associations dataset.

Infantile polyarteritis Gene Set

From CTD Gene-Disease Associations

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

LIVER FAILURE, INFANTILE, TRANSIENT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LIVER FAILURE, INFANTILE, TRANSIENT from the curated CTD Gene-Disease Associations dataset.

Refsum Disease, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Refsum Disease, Infantile from the curated CTD Gene-Disease Associations dataset.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 from the curated CTD Gene-Disease Associations dataset.

Glaucoma 3, primary infantile, B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 3, primary infantile, B from the curated CTD Gene-Disease Associations dataset.

SEIZURES, BENIGN FAMILIAL INFANTILE, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL INFANTILE, 2 from the curated CTD Gene-Disease Associations dataset.

Amish Infantile Epilepsy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Amish Infantile Epilepsy Syndrome from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 4 from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 2 from the curated CTD Gene-Disease Associations dataset.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 from the curated CTD Gene-Disease Associations dataset.

Hemangioma, capillary infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hemangioma, capillary infantile from the curated CTD Gene-Disease Associations dataset.

Striatonigral degeneration infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Striatonigral degeneration infantile from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 5 from the curated CTD Gene-Disease Associations dataset.

Spasms, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spasms, Infantile from the curated CTD Gene-Disease Associations dataset.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 from the curated CTD Gene-Disease Associations dataset.

Convulsions, Benign Familial Infantile, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Convulsions, Benign Familial Infantile, 4 from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic 1 from the curated CTD Gene-Disease Associations dataset.

Epileptic Encephalopathy, Early Infantile, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 3 from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Infantile from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 3 from the curated CTD Gene-Disease Associations dataset.

Polycystic kidneys, severe infantile with tuberous sclerosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 from the curated CTD Gene-Disease Associations dataset.

Hypophosphatasia, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypophosphatasia, Infantile from the curated CTD Gene-Disease Associations dataset.

MYOCLONIC EPILEPSY, FAMILIAL INFANTILE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOCLONIC EPILEPSY, FAMILIAL INFANTILE from the curated CTD Gene-Disease Associations dataset.

infantile onset spinocerebellar ataxia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease infantile onset spinocerebellar ataxia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

infantile onset spinocerebellar ataxia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease infantile onset spinocerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

benign familial infantile epilepsy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease benign familial infantile epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

infantile refsum disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

fatal infantile encephalocardiomyopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease fatal infantile encephalocardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

seborrheic infantile dermatitis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease seborrheic infantile dermatitis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

neurofibromatosis 1; spasms, infantile Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neurofibromatosis 1; spasms, infantile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infantile hypophosphatasia Gene Set

From GAD Gene-Disease Associations

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

infantile hypertrophic pyloric stenosis. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infantile hypertrophic pyloric stenosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial hemiplegic migraine and benign familial infantile convulsions Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial hemiplegic migraine and benign familial infantile convulsions in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infantile-onset ascending hereditary spastic paralysis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infantile-onset ascending hereditary spastic paralysis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infantile hypertrophic pyloric stenosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infantile hypertrophic pyloric stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diarrhea, infantile Gene Set

From GAD Gene-Disease Associations

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

spasms, infantile Gene Set

From GAD Gene-Disease Associations

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

infantile Gene Set

From GeneRIF Biological Term Annotations

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

Infantile hypertrophic pyloric stenosis Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Infantile hypertrophic pyloric stenosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

calcific stippling of infantile cartilaginous skeleton Gene Set

From HPO Gene-Disease Associations

genes associated with the calcific stippling of infantile cartilaginous skeleton phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile onset Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile onset phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile hypercalcemia Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile hypercalcemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile muscular hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile sensorineural hearing impairment Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile encephalopathy Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile spasms Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile spasms phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile axial hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile axial hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Spasms, Infantile Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Spasms, Infantile phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Infantile Apparent Life-Threatening Event Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Infantile Apparent Life-Threatening Event phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Diarrhea, Infantile Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Diarrhea, Infantile phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

pyloric stenosis, infantile hypertrophic, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyloric stenosis, infantile hypertrophic, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

pyloric stenosis, infantile hypertrophic, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyloric stenosis, infantile hypertrophic, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

pyloric stenosis, infantile hypertrophic, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyloric stenosis, infantile hypertrophic, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

pyloric stenosis, infantile hypertrophic, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyloric stenosis, infantile hypertrophic, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 24 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 24 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 25 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 25 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 26 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 26 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 27 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 27 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 23 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 23 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, x-linked 2, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, x-linked 2, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

seizures, benign familial infantile, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the seizures, benign familial infantile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

seizures, benign familial infantile, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the seizures, benign familial infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

seizures, benign familial infantile, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the seizures, benign familial infantile, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

seizures, benign familial infantile, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the seizures, benign familial infantile, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

amish infantile epilepsy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the amish infantile epilepsy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

hypertriglyceridemia, transient infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypertriglyceridemia, transient infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

liver failure, transient infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the liver failure, transient infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

?myofibromatosis, infantile 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?myofibromatosis, infantile 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypercalcemia, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercalcemia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

nephronophthisis 2, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the nephronophthisis 2, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

myofibromatosis, infantile, 1 Gene Set

From OMIM Gene-Disease Associations

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

neuroaxonal neurodegeneration, infantile, with facial dysmophism Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuroaxonal neurodegeneration, infantile, with facial dysmophism phenotype from the curated OMIM Gene-Disease Associations dataset.

parkinsonism-dystonia, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the parkinsonism-dystonia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

sting-associated vasculopathy, infantile-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the sting-associated vasculopathy, infantile-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

?infantile liver failure syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?infantile liver failure syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

?infantile liver failure syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?infantile liver failure syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

myasthenia, familial infantile, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenia, familial infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 19 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 19 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

{hemangioma, capillary infantile, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hemangioma, capillary infantile, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

nystagmus, infantile periodic alternating, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus, infantile periodic alternating, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

hemangioma, capillary infantile, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemangioma, capillary infantile, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

infantile neuroaxonal dystrophy 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the infantile neuroaxonal dystrophy 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

myoclonic epilepsy, infantile, familial Gene Set

From OMIM Gene-Disease Associations

genes associated with the myoclonic epilepsy, infantile, familial phenotype from the curated OMIM Gene-Disease Associations dataset.

?epileptic encephalopathy, early infantile, 21 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?epileptic encephalopathy, early infantile, 21 phenotype from the curated OMIM Gene-Disease Associations dataset.

polycystic kidney disease, infantile severe, with tuberous sclerosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset.

hypophosphatasia, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypophosphatasia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

juvenile polyposis syndrome, infantile form Gene Set

From OMIM Gene-Disease Associations

genes associated with the juvenile polyposis syndrome, infantile form phenotype from the curated OMIM Gene-Disease Associations dataset.

infantile cerebellar-retinal degeneration Gene Set

From OMIM Gene-Disease Associations

genes associated with the infantile cerebellar-retinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset.

sandhoff disease, infantile, juvenile, and adult forms Gene Set

From OMIM Gene-Disease Associations

genes associated with the sandhoff disease, infantile, juvenile, and adult forms phenotype from the curated OMIM Gene-Disease Associations dataset.

sialic acid storage disorder, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the sialic acid storage disorder, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

autoinflammation with infantile enterocolitis Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoinflammation with infantile enterocolitis phenotype from the curated OMIM Gene-Disease Associations dataset.

autoimmune disease, multisystem, infantile-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoimmune disease, multisystem, infantile-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

convulsions, familial infantile, with paroxysmal choreoathetosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the convulsions, familial infantile, with paroxysmal choreoathetosis phenotype from the curated OMIM Gene-Disease Associations dataset.

striatonigral degeneration, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the striatonigral degeneration, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 3, primary infantile, b Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 3, primary infantile, b phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paralysis, infantile onset ascending Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paralysis, infantile onset ascending phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) pathway from the Reactome Pathways dataset.

Infantile Cardiomyopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Spasm Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Spasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Nystagmus Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Nystagmus Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Myofibromatosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Myofibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Hemangioma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Hemangioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Severe Myoclonic Epilepsy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Severe Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Cerebellar-Retinal Degeneration Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Cerebellar-Retinal Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Infantile Spinal Muscular Atrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Infantile Spinal Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Scurvy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Scurvy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Autoimmune Disease, Multisystem, Infantile-Onset, 1 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autoimmune Disease, Multisystem, Infantile-Onset, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Autoimmune Disease, Multisystem, Infantile-Onset, 2 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autoimmune Disease, Multisystem, Infantile-Onset, 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Infantile Neurological, Cutaneous, And Articular Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Infantile Neurological, Cutaneous, And Articular Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Early Infantile Epileptic Encephalopathy With Suppression Bursts Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Early Infantile Epileptic Encephalopathy With Suppression Bursts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Hypophosphatasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Hypophosphatasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hereditary Spastic Paralysis, Infantile Onset Ascending Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hereditary Spastic Paralysis, Infantile Onset Ascending in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Uterus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Uterus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemangioma, Capillary Infantile Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemangioma, Capillary Infantile in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cryptogenic Infantile Spasms Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cryptogenic Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Refractory Infantile Spasms Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Refractory Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Neuroaxonal Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Neuroaxonal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Striatonigral Degeneration, Infantile, Mitochondrial Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Striatonigral Degeneration, Infantile, Mitochondrial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Malignant Osteopetrosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Malignant Osteopetrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Endemic Tyrolean Infantile Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Endemic Tyrolean Infantile Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Amish Infantile Epilepsy Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Amish Infantile Epilepsy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Fibrosarcoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Fibrosarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Necrotizing Encephalopathy, Infantile Subacute, Of Leigh in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Infantile Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Infantile Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Infantile Ganglioglioma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Infantile Ganglioglioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

X-Linked Infantile Nystagmus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease X-Linked Infantile Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Refsum Disease (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Refsum Disease (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Familial Infantile Myasthenia Gene Set

From DisGeNET Gene-Disease Associations

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

Infantile Onset Spinocerebellar Ataxia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Onset Spinocerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Myasthenia, Familial Infantile, 1 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Myasthenia, Familial Infantile, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symptomatic Infantile Spasms Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Symptomatic Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Cataract Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Cataract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cystinosis, Infantile Nephropathic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cystinosis, Infantile Nephropathic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Idiopathic Infantile Hypercalcemia - Mild Form Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Idiopathic Infantile Hypercalcemia - Mild Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Fibromatosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Fibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fastkd2-Related Infantile Mitochondrial Encephalomyopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fastkd2-Related Infantile Mitochondrial Encephalomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Atopic Dermatitis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Atopic Dermatitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Globoid Cell Leukodystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Globoid Cell Leukodystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Sialic Acid Storage Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Sialic Acid Storage Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Sandhoff Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Sandhoff Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Sting-Associated Vasculopathy, Infantile-Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Sting-Associated Vasculopathy, Infantile-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Digital Fibromatosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Digital Fibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Liver Failure Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Liver Failure Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Late Infantile Neuroaxonal Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Late Infantile Neuroaxonal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Constant Exotropia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Constant Exotropia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Gm 2 Gangliosidosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Gm 2 Gangliosidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Benign Infantile Myoclonic Epilepsy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Benign Infantile Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diplegic Infantile Cerebral Palsy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diplegic Infantile Cerebral Palsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Apnea Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Monoplegic Infantile Cerebral Palsy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Monoplegic Infantile Cerebral Palsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Convulsions And Paroxysmal Choreoathetosis, Familial (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Convulsions And Paroxysmal Choreoathetosis, Familial (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Gastroenteritis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Gastroenteritis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Early Infantile Epileptic Encephalopathy, Refractory Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Early Infantile Epileptic Encephalopathy, Refractory in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fatal Infantile Mitochondrial Cardiomyopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fatal Infantile Mitochondrial Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Free Sialic Acid Storage Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Free Sialic Acid Storage Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Asthma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Infantile Astrocytoma And Ganglioglioma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Infantile Astrocytoma And Ganglioglioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Liver Failure, Infantile, Transient Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Liver Failure, Infantile, Transient in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Muscular Hypotonia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Infantile Muscular Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Infantile Diarrhea Gene Set

From DisGeNET Gene-Phenotype Associations

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

Infantile Nystagmus Gene Set

From DisGeNET Gene-Phenotype Associations

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

Infantile Obesity Gene Set

From DisGeNET Gene-Phenotype Associations

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

Infantile Axial Hypotonia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Infantile Axial Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Hemangioma, Capillary Infantile, Somatic Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Hemangioma, Capillary Infantile, Somatic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Infantile Colic Gene Set

From DisGeNET Gene-Phenotype Associations

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

Infantile Sensorineural Hearing Impairment Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Infantile Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 Gene Set

From Reactome Pathways 2024

proteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 pathway from the Reactome Pathways 2024 dataset.

Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 Gene Set

From Reactome Pathways 2024

proteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 pathway from the Reactome Pathways 2024 dataset.

COX deficiency, infantile mitochondrial myopathy Gene Set

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

genes co-occuring with the disease COX deficiency, infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile hypertrophic cardiomyopathy Gene Set

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

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

Early infantile epileptic encephalopathy Gene Set

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

genes co-occuring with the disease Early infantile epileptic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile liver failure syndrome Gene Set

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

genes co-occuring with the disease Infantile liver failure syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Fatal infantile hypertonic myofibrillar myopathy Gene Set

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

genes co-occuring with the disease Fatal infantile hypertonic myofibrillar myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile Refsum disease Gene Set

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

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

Benign familial infantile seizures 3 Gene Set

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

genes co-occuring with the disease Benign familial infantile seizures 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Benign familial infantile epilepsy Gene Set

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

genes co-occuring with the disease Benign familial infantile epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile parkinsonism-dystonia 2 Gene Set

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

genes co-occuring with the disease Infantile parkinsonism-dystonia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile hypophosphatasia Gene Set

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

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

Seborrheic infantile dermatitis Gene Set

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

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

COX deficiency, benign infantile mitochondrial myopathy Gene Set

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

genes co-occuring with the disease COX deficiency, benign infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile cerebellar-retinal degeneration Gene Set

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

genes co-occuring with the disease Infantile cerebellar-retinal degeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile myofibromatosis Gene Set

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

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

Benign familial infantile seizures 2 Gene Set

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

genes co-occuring with the disease Benign familial infantile seizures 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient infantile liver failure Gene Set

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

genes co-occuring with the disease Transient infantile liver failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Benign familial infantile seizures 5 Gene Set

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

genes co-occuring with the disease Benign familial infantile seizures 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile hypotonia with psychomotor retardation and characteristic facies-3 Gene Set

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

genes co-occuring with the disease Infantile hypotonia with psychomotor retardation and characteristic facies-3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile histiocytoid cardiomyopathy Gene Set

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

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

Infantile liver failure syndrome 1 Gene Set

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

genes co-occuring with the disease Infantile liver failure syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile GM1 gangliosidosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile GM1 gangliosidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial infantile myasthenia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial infantile myasthenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Chronic infantile neurological Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Chronic infantile neurological phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile-onset ascending hereditary spastic paralysis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile-onset ascending hereditary spastic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile onset spinocerebellar ataxia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile onset spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile neuroaxonal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile neuroaxonal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neonatal/infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neonatal/infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile nephronophthisis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile nephronophthisis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Capillary infantile hemangioma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Capillary infantile hemangioma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Benign familial infantile epilepsy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Benign familial infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Benign sporadic infantile epilepsy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Benign sporadic infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypophosphatasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypophosphatasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

LAMB2-related infantile-onset nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the LAMB2-related infantile-onset nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile cortical hyperostosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile cortical hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile cerebral and cerebellar atrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile nephropathic cystinosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile nephropathic cystinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile spasms Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile spasms phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile convulsions and choreoathetosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile convulsions and choreoathetosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fatal infantile hypertonic myofibrillar myopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fatal infantile hypertonic myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile myofibromatosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile myofibromatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile Nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile Nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Self-limited familial infantile epilepsy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Self-limited familial infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile cerebellar-retinal degeneration Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile cerebellar-retinal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile bilateral striatal necrosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile bilateral striatal necrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Early Infantile Epileptic Encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Early Infantile Epileptic Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial infantile myoclonic epilepsy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial infantile myoclonic epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fatal Infantile Cardioencephalomyopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fatal Infantile Cardioencephalomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile liver failure syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile liver failure syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Periodic fever-infantile enterocolitis-autoinflammatory syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Periodic fever-infantile enterocolitis-autoinflammatory syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile osteopetrosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile osteopetrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Syndromic Infantile Encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Syndromic Infantile Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile-onset X-linked spinal muscular atrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile-onset X-linked spinal muscular atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypercalcemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypercalcemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

IL21-related infantile inflammatory bowel disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the IL21-related infantile inflammatory bowel disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile epileptic dyskinetic encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile epileptic dyskinetic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile or childhood onset neurodegenerative disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile or childhood onset neurodegenerative disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile liver failure Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile liver failure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile-onset generalized dyskinesia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile-onset generalized dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive infantile hypercalcemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive infantile hypercalcemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Transient infantile hypertriglyceridemia and hepatosteatosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Transient infantile hypertriglyceridemia and hepatosteatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Episodic kinesigenic dyskinesia and familial infantile convulsions Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Episodic kinesigenic dyskinesia and familial infantile convulsions phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial infantile bilateral striatal necrosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial infantile bilateral striatal necrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypertrophic pyloric stenosis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Infantile hypertrophic pyloric stenosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.