DISEASES

Disease-gene associations mined from literature

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Human genes for congenital generalized lipodystrophy type 1

Congenital generalized lipodystrophy type 1 [DOID:0111135]

A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.

Synonyms:  congenital generalized lipodystrophy type 1,  DOID:0111135,  Berardinelli-Seip Congenital Lipodystrophy, Type 1,  Brunzell syndrome AGPAT2-related,  BerardinelliSeip Congenital Lipodystrophy Type 1 ...

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.