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Involvement in disease

Last modified April 2, 2020

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.

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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