Interpreting the Associated Human Diseases Report

This help document answers the following questions about the Associated Human Diseases report:

See also:

What is the Associated Human Diseases report?

The Associated Human Diseases report lists all distinct diseases annotated to any genotype of any allele of a given gene.


What should show up on this report?

The report header identifes the symbol, name, and MGI accession identifier of the gene of interest. The report body contains a list of human diseases next to the OMIM accession identifier. List items are linked by the OMIM accession ID to the OMIM disease page and by the disease name to an MGI Human Disease and Mouse Model Detail report.


How do I interpret this report?

Note: Inclusion in this report does not necessarily mean that mutations in the gene of interest contribute to or cause the disease listed in Human Disease column. The gene may have an allele that is part of a complex genotype that includes other causative genes.

SymbolOfficial symbol for the gene.
NameApproved name for gene.
IDMGI identifier of the gene.
OMIM IDOMIM accession identifier of the disease, linked to the OMIM disease detail page.
Human DiseaseOMIM human sisease term for the disease, syndrome, condition.
All [gene name] mutant alleles
associated with human diseases
Link to the Phenotypic Allele Summary report for this gene.


What if I'm interested in more mouse models of human diseases?

Fill in the Phenotype/Disease box on the Phenotypes, Alleles, and Disease Models Query Form. See Using the Phenotypes, Alleles, and Disease Models Query Form for a full explanation.