DISEASES

Disease-gene associations mined from literature

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Human genes for Aicardi-Goutieres syndrome

Aicardi-Goutieres syndrome [DOID:0050629]

A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.

Synonyms:  Aicardi-Goutieres syndrome,  AicardiGoutieres syndrome,  Aicardi-Goutieres disease,  Aicardi-Goutieres disorder,  Aicardi-Goutieres syndromes ...

Linkouts:  OMIM #1 #2 #3 #4 #5 #6

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.