DISEASES

Disease-gene associations mined from literature

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Human genes for ataxia telangiectasia

Ataxia telangiectasia [DOID:12704]

Ataxia telangiectasia (A-T) (Boder-Sedgwick syndrome or Louis–Bar syndrome:555) is a rare, neurodegenerative, inherited disease that affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. The disease is characterized by hypersensitivity to x-rays and predisposition to lymphomas.

Synonyms:  ataxia telangiectasia,  DOID:12704,  Boder-Sedgwick syndrome,  Louis Bar syndrome,  BoderSedgwick syndrome ...

The disease associations are derived via automatic text mining of the biomedical literature and have not been manually verified. The confidence of each association is signified by stars, where ★★★★☆ is the highest confidence and ★☆☆☆☆ is the lowest.

Each disease–gene association is based on a text-mining score, which is proportional to 1) the absolute number of comentionings and 2) the ratio of observed to expected comentionings (i.e. the enrichment). These scores are normalized to z-scores by comparing them to a random background. This is represented by stars, each star corresponding to two standard deviations above the mean of the background distribution.

Developed by Sune Frankild and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.