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Involvement in disease

Last modified November 18, 2016

This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the OMIM database are represented with a controlled vocabulary in the following way:

Disease name (Disease abbreviation) [Link to OMIM]: Disease description.

An optional “Note=” field is used to describe the role of the gene/protein in disease pathogenesis and distinguish, when possible, between causative, susceptibility and modifier genes according to literature and OMIM reports.

Examples: Q01718, Q15198, P51800 and P51801, Q6W5P4, P52895 and P17516.

The “Note=” field is also used to indicate the role of a protein in disease manifestation in cases where the protein is functionally impaired although the corresponding coding gene does not contain any mutation.

Examples:

P15289 (causative gene Q8NBK3)

Q15465 (causative gene Q8WVP7)

Q9NR56 (causative gene Q09013)

The accession numbers of OMIM entries that describe a phenotype (or a gene and phenotype) are shown in this subsection, as well as in the ‘Organism-Specific Databases’ subsection of the ‘Cross-references’ section, which also provides links to OMIM entries that describe the gene itself.

Examples: Q01718, P84996

Chromosomal rearrangements (translocations, inversions) are also described in this subsection.

Examples: P11308, Q15532, Q16385

If the sequence position of the translocation breakpoint is known and causes a fusion protein, it is annotated in the ‘Site’ subsection.

Example: In Q8IZP0 the annotation in the ‘Pathology and Biotech’ section is completed by information at the sequence level (‘Site’ subsection).

Related keyword: Chromosomal rearrangement.

Disease information that is not described in OMIM is annotated as free text.

Examples: P00395, Q02388

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