DIOPT-DIST Documentation



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 and GWAS datasets contained in the GWAS catalog 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

ID 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

FlyBase IDFly SymbolHuman GeneIDHuman SymbolDIOPT ScoreOMIM IDDisease/TraitSource
FBgn0012036 Aldh 217 ALDH2 8 100650 {Hangover, susceptibility to}, 610251 (3) OMIM
100650 {Sublingual nitroglycerin, susceptibility to poor response to} (3) OMIM
100650 Alcohol sensitivity, acute, 610251 (3) OMIM
100650 {Esophageal cancer, alcohol-related, susceptibility to} (3) OMIM

Notes on Disease/Trait column:

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).

If you have questions, suggestions or comments on DIOPT please contact our informatics staff.