# DIOPT-DIST Documentation ## expand\_more ## URL ### The DIOPT-DIST Approach Facilitating the identification of orthologs between a model organism and humans is of particular relevance to genes associated with human diseases. Keeping in mind that researchers visiting or otherwise using resources from the DRSC are often interested to identify orthologs of disease-associated genes, including genes more recently identified through genome-wide association studies (GWAS), we decided to take DIOPT results a step further by linking them up with disease associations in curated resources. DIOPT-DIST is an online-searchable tool that maps gene-disease relationships from the [NCBI Online Mendelian Inheritance in Man (OMIM) database](http://www.ncbi.nlm.nih.gov/omim) and GWAS datasets contained in the [GWAS catalog](http://www.genome.gov/gwastudies/) to genes in the C. elegans, Drosophila, mouse, S. cerevisiae, and zebrafish genomes using DIOPT orthologous predictions. Disease terms were extracted from OMIM and GWAS ftp files and were categorized with MeSH headings. 2 additional categories were added for the terms out of the scope of MeSH disease annotation such as disease risk factors and traits (table 4). The user may search 1.) the related human diseases by a list of genes from model organisms; 2.) the corresponding genes in model organisms by disease term, disease category or IDs from OMIM. Both gene/locus OMIM IDs (starts with \* or + on the OMIM website eg. 100650) and disease phenotype OMIM IDs (starts with # or % on the OMIM website eg. 610251) can be searched at DIOPT-DIST (table 5). ### Figure 2: The DIOPT-DIST Approach ### Table 4. Disease Categories SortID Disease Category Source C01 Bacterial Infections and Mycoses MeSH heading C02 Virus Diseases MeSH heading C03 Parasitic Diseases MeSH heading C04 Neoplasms MeSH heading C05 Musculoskeletal Diseases MeSH heading C06 Digestive System Diseases MeSH heading C07 Stomatognathic Diseases MeSH heading C08 Respiratory Tract Diseases MeSH heading C09 Otorhinolaryngologic Diseases MeSH heading C10 Nervous System Diseases MeSH heading C11 Eye Diseases MeSH heading C12 Male Urogenital Diseases MeSH heading C13 Female Urogenital Diseases and Pregnancy Complications MeSH heading C14 Cardiovascular Diseases MeSH heading C15 Hemic and Lymphatic Diseases MeSH heading C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities MeSH heading C17 Skin and Connective Tissue Diseases MeSH heading C18 Nutritional and Metabolic Diseases MeSH heading C19 Endocrine System Diseases MeSH heading C20 Immune System Diseases MeSH heading C21 Disorders of Environmental Origin MeSH heading C23 Pathological Conditions, Signs and Symptoms MeSH heading C24 Occupational Diseases MeSH heading C25 Substance-Related Disorders MeSH heading C26 Wounds and Injuries MeSH heading F03 Mental Disorders MeSH heading Y01 Disease risk factor, diagnosis or treatment Added for terms not included in MeSH Y02 Trait Added for terms not included in MeSH ### Table 5. DIOPT-DIST result page, one example of OMIM terms Sort[FlyBase](http://flybase.org/) IDFly SymbolHuman GeneIDHuman SymbolDIOPT ScoreOMIM IDDisease/TraitSource[FBgn0012036](http://flybase.org/reports/FBgn0012036.html) Aldh [217](http://www.ncbi.nlm.nih.gov/gene?term=217) ALDH2 [8](http://www.flyrnai.org/cgi-bin/DRSC_prot_align.pl?proteinid1=273&proteinid2=95885) 100650 {Hangover, susceptibility to}, 610251 (3) [OMIM](http://www.ncbi.nlm.nih.gov/omim) 100650 {Sublingual nitroglycerin, susceptibility to poor response to} (3) [OMIM](http://www.ncbi.nlm.nih.gov/omim) 100650 Alcohol sensitivity, acute, 610251 (3) [OMIM](http://www.ncbi.nlm.nih.gov/omim) 100650 {Esophageal cancer, alcohol-related, susceptibility to} (3) [OMIM](http://www.ncbi.nlm.nih.gov/omim) **Notes on Disease/Trait column:** - 100650 is an example of an OMIM ID for gene/locus terms, starting with a "+" at the OMIM website ([http://omim.org/entry/100650?search=100650&highlight=100650 ](http://omim.org/entry/100650?search=100650&highlight=100650)). - 610251 is an example of an OMIM ID for disease phenotype terms, starting with a "#" at the OMIM website ([http://omim.org/entry/610251?search=610251&highlight=610251 ](http://omim.org/entry/610251?search=610251&highlight=610251)). Disease term: **{**Hangover, susceptibility to**}**, **610251 (3)** - **610251** is the OMIM ID for the phenotype. - Brackets, "**{ }**", indicate mutations that contribute to susceptibility to multi-factorial disorders or to susceptibility to infection. - "**(3)**" means the molecular basis of the disorder is known. For more information about OMIM annotation, please go to the [OMIM help page (http://omim.org/help/faq)](http://omim.org/help/faq). If you have questions, suggestions or comments on DIOPT please contact our [informatics staff](http://www.flyrnai.org/DRSC-PEO.html).