Mondo Description Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
High level summary of knowledge for a disease, including descriptions and datasource references.
click for section description and definitions
Opens the Target List with this set of targets
Genome-wide association studies (GWAS) find associations between phenotypic traits and genes. Target Illumination GWAS Analytics (TIGA) scores and ranks those traits according to a subset of study parameters.
Disease categories representing more general classifications of the current disease. Total count of associated targets, and a breakdown of targets by Target Development Level is shown.
Disease categories representing more specific classifications of the current disease. Total count of associated targets, and a breakdown of targets by Target Development Level is shown.
Related diseases are represented as parents or children following the disease hierarchy defined by Disease Ontology.
The calculated importance and novelty for targets associated with this disease or it's children.
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Description of the protein which includes the UniProt Function and the NCBI Gene Summary.
Uniprot linked accession values, symbols or commonly used abbreviations associated with this particular target.
Approved gene symbol with link to HUGO Gene Nomenclature Committee.
Ensembl identifier links.
List of abbreviations or acronyms of the full target name.
Radar plot depicting the variety of knowledge obtained by Pharos for a particular target. The more spikes in the plot, the more variety. The longer the length, the higher the quantity of that particular knowledge. Clicking the illumination graph opens an expanded view to explore the plot fuller by seeing plot with annotations of the different radii.
Table representing the top 5 knowledge attributes in the illumination graph. The knowledge value property is on a scale of 0 to 1.
Gene symbols, accession ids and various other target identifiers. Also contains the illumination graph which highlights the amount of knowledge available. Click the '?' button for more information
Hierarchical classifications for this protein from different ontologies.
Descriptions of the IDG illumination levels, highlighting the milestones attained in research for this target.
Jensen Lab generated fractional counting score for the prevalence of this gene in Pubmed articles.
Total count of NCBI Gene Reference Into Function hits for target listed in parenthesis, and summary table with links to publications per PMID with the specific text in article that includes the reported target.
Number of antibodies for this target listed in antibodypedia.com
Number of Gene Ontology (GO) annotations for this target, consisting of the sum of GO Functions and GO Processes.
Ligands associated with a target, listed in ChEMBL, with activity over a cutoff relative to the targetclass.
Approved drugs associated with a target.
Expression data from several sources shown as a heatmap of tissues and data sources, and as a shaded anatomogram.
Bar chart summarizing the number of times each residue appears in the sequence. The bars represent the actual counts, while the gold lines represent the expected counts given the frequency of the amino acids in all human genes.
Amino acid sequence of the target protein.
Begin a sequence search with this sequence
The protein sequence aligned with structural and functional annotations, as well as disease variants.
Amino acid sequence, and a detailed sequence structure viewer via the Uniprot Protvista viewer.
A list of related tools that have content for this protein.
Approved drugs that are associated with this target.
Active ligands that are associated with this target.
See interacting proteins on String-db.org
List of protein-protein interactions associated with this gene. Interactions are reported from Reactome, BioPlex, and StringDB. StringDB score must be above 0.400 to be shown here. Explore on the String-DB website to see lower likelihood targets.
Vesicle-associated membrane protein 4
Tin-X metric for the relative scarcity of specific publications for this target.
BioPlex score representing the probability of the protein protein interaction.
BioPlex score representing the probability that the interaction detected was non-specific.
String-DB score representing the confidence in the protein protein interaction.
Data Sources reporting this protein-protein interaction.
Vesicle transport through interaction with t-SNAREs homolog 1B
Vesicle-associated membrane protein 5
BioPlex score representing the probability that the interacting protein was wrongly identified.
cAMP-dependent protein kinase type I-beta regulatory subunit
A broad classification of protein families
Thyroid hormone-inducible hepatic protein
Peroxisomal sarcosine oxidase
Syntaxin-binding protein 6
A listing of the nearest upstream and downstream targets from KEGG pathways that have reached the Tclin designation.
Biochemical pathways containing the current target.
Pathways and diagrams from Reactome.
Find Targets with an overlapping set of Reactome Pathways
Details about predicted viral interactions with this protein, from P-HIPSTer.
A network of biological classes describing the molecular function, cellular locations, and processes genes may carry out, as defined by the Gene Ontology Consortium.
Find Targets with an overlapping set of GO Functions
Find Targets with an overlapping set of GO Components
Find Targets with an overlapping set of GO Processes
Function terms describe molecular activities performed by gene products. Terms may be broad, such as "catalytic activity" or narrow, such as "adenylate cyclase activity".
Component terms describe locations relative to cellular structures in which a gene product performs a function.
Process terms describe larger "biological programs" accomplished by multiple molecular activities. Like Functions, Process terms can be broad, such as "DNA repair", or narrow, such as "pyrimidine nucleobase biosynthetic process".
This is a list of diseases associated with this target, compiled by several resources. Each
resource provides different confidence measurements and association values, which are described below.
Explore on Target Illumination GWAS Analytics (TIGA)
Occurrence of this target in up to 10 categories of UniProt keywords.
Find Targets with an overlapping set of UniProt Keywords
Occurrence of this target in up to 10 categories of GWAS Traits.
Find Targets with an overlapping set of GWAS Traits
List of targets within Pharos that are related to this target.
Reagents and data sources generated by IDG partner organizations
Orthologous proteins from other species, from OMA, EggNOG, and Inparanoid.
Statistics about the occurence of this target in literature, extracted via text mining. GeneRIFs,and text-mined publications are also displayed. For more details, click the '?' button.
The Pubmed Score (also sometimes referred to as the Jensen Score) is
derived from text mining a set of Pubmed abstracts.
Timeline of pubtator scores for each available year.
Text-mining extracted GeneRIFs, and publications. For more details, click the '?' button.
Publications associated with this target, as identified using the JensenLab text mining protocol