FlyBase:Human Disease Model Report
Last Updated:
Introduction
General Information
| Name | The valid full name that is used in FlyBase for the Human Disease Model. |
| FlyBase ID | The Primary FlyBase identifier number of the human disease, used to uniquely identify the Human Disease Model in the database. |
| Disease Ontology ID | Links to Disease Ontology term report in the Vocabularies tool. |
| Parent Disease | Links to parent entity, which describes general and shared information for the phenotypic series. Specific (child) diseases are usually defined by a single causative human gene. |
| OMIM | Links to relevant OMIM phenotype report. |
| Parent Disease DOID | Links to Disease Ontology term report for the Parent Disease in the Vocabularies tool. |
Overview
The overview is a brief summary of the Drosophila human disease model, and offers a It includes the FlyBase disease name, the human gene implicated, the Drosophila ortholog(s) of the implicated human gene, the nature of available genetic reagents, whether the human gene has been transgenically expressed, the nature of transgenically expressed human constructs, whether the human gene has been used to heterologously rescue Drosophila loss-of-function phenotypes, the kinds of experiments that have been performed, and whether therapeutic agents have been screened.
Disease Summary Information
Parent Disease Summary
| Symptoms and phenotype | Describes symptoms and phenotypes shared by diseases in the relevant phenotypic series. Entry includes links to outside source, and is date-stamped as to when a FlyBase curator last consulted the source. |
Specific Disease Summary
| OMIM report | Links to relevant OMIM phenotype report. |
| Symptoms and phenotype | Describes symptoms and phenotypes characteristic of the disease. Entry includes links to outside source, and is date-stamped as to when a FlyBase curator last consulted the source. |
| Genetics | Describes the genetics of the disease, including causative human gene, and pattern of inheritance. Entry includes links to outside source, and is date-stamped as to when a FlyBase curator last consulted the source. |
| Cellular phenotype and pathology | Describes the cellular phenotype and pathology characteristic of the disease. Entry includes links to outside source, and is date-stamped as to when a FlyBase curator last consulted the source. |
| Molecular information | Describes molecular information relevant to the disease, including information about the function of the causative gene, molecular information about mutations in the causative gene, and/or molecular information about mutant isoforms of the causative protein. Entry includes links to outside source, and is date-stamped as to when a FlyBase curator last consulted the source. |
| External links | Links to external resources providing additional background concerning the disease. |
| Disease synonyms | A listing of other names, abbreviations, acronyms and terms that have been used to refer to the disease. |
Related Diseases
| Related human health report(s) | Links to the Report(s) of disease(s) that are related to the disease that is the subject of a Human Disease Model Report, but is not a member of the same phenotypic series. For example, the diseases could be related by having the same causative human gene. |
Related Specific Diseases
| OMIM phenotypic series | Links to relevant OMIM phenotypic series. |
A table that consists of four columns:
Disease - Consists of OMIM symbol, links to OMIM phenotype report.
Associated Human gene(s) - Consists of OMIM symbol, links to OMIM genotype report.
Drosophila model - Consists of valid full name that is used in FlyBase for the disease, links to Human Disease Model Report.
Human transgene in Drosophila - "y" or no entry; has the human ortholog been transgenically expressed in flies.
Ortholog Information
| Human gene (HGNC) | field text |
| Human gene (FlyBase) | field text |
| D. melanogaster ortholog (based on DIOPT) | field text |
| Comments on ortholog(s) | field text |
| Other mammalian ortholog(s) used | field text |
D. melanogaster Gene Information
field text
Synthetic Gene(s) Used
field text
Experimental Findings
Summary
field text
Human Disease Wiki (Experimental Findings)
| User Contributed Commentary | field text |
Description of Experiments
| Mammalian transgenics: heterologous rescue | field text |
| Mammalian transgenics: transgenic phenotype | field text |
| Mammalian transgenics: interactions | field text |
| Mammalian transgenics: pertubations and treatments | field text |
| Drosophila genes: relevant phenotypes | field text |
| Drosophila genes: interactions | field text |
| Drosophila genes: pertubations and treatments | field text |
| Drosophila recombinant constructs: phenotype or rescue | field text |
| Additional information | field text |
| Proposed mechanisms | field text |
Summary of Physical Interactions
field text
Alleles Reported to Model Human Disease (Disease Ontology)
field text
Genetic Tools, Stocks and Reagents
Sources of Stocks
| Bloomington Stock Center Disease Page | field text |
Selected mammalian transgenes
A table that consists of three columns:
Allele - field text
Transgene - field text
Publicly Available Stocks - field text
Selected Drosophila transgenes
A table that consists of three columns:
Allele - field text
Transgene - field text
Publicly Available Stocks - field text
RNAi constructs available
A table that consists of three columns:
Allele - field text
Transgene - field text
Publicly Available Stocks - field text
Selected Drosophila classical alleles
A table that consists of four columns:
Allele - field text
Allele class - field text
Mutagen - field text
Publicly Available Stocks - field text
References
field text