DISEASES

Disease-gene associations mined from literature

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Human genes for Blau syndrome

Blau syndrome [DOID:0050678]

A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene.

Synonyms:  Blau syndrome,  Blau disease,  Blau disorder,  Blau syndromes,  DOID:0050678 ...

Linkouts:  OMIM #1 #2

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.