Mondo Description Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.
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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.
This disease has been annotated by GARD as a rare disease.
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.
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Opens the Target List with this set of targets
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A classification of the degree to which proteins are studied or not studied, as evidenced by publications, tool compounds and other features.
See details for KRTAP9-6
Radar plot depicting the variety of knowledge obtained by Pharos for this target.
Primary UniProt accession number
A broad classification of protein families
Number of high confidence protein protein interactions for this target.
Jensen Lab generated fractional counting score for the prevalence of this target in PubMed articles.
A score based on text mining PubMed data.
Number of antibodies for this target listed in antibodypedia.com.
TIN-X metric for the relative scarcity of specific publications for this target.
See details for KRTAP29-1
See details for KRTAP19-4
See details for KRTAP20-3
See details for KRTAP22-2
See details for KRTAP12-4
See details for KRTAP23-1
See details for KRTAP20-4
See details for KRTAP10-9
See details for C8orf88
Download Data for F2RL1
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.
Classes for this protein according to by Drug Target Ontology (DTO).
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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.