DISEASES

Disease-gene associations mined from literature

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Human genes for congenital generalized lipodystrophy type 2

Congenital generalized lipodystrophy type 2 [DOID:0111136]

A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.

Synonyms:  congenital generalized lipodystrophy type 2,  DOID:0111136,  Berardinelli-Seip congenital lipodystrophy type 2,  Berardinelli-Seip syndrome,  Brunzell syndrome BSCL2-related ...

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.