DISEASES

Disease-gene associations mined from literature

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Human genes for congenital generalized lipodystrophy type 4

Congenital generalized lipodystrophy type 4 [DOID:0111138]

A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.

Synonyms:  congenital generalized lipodystrophy type 4,  DOID:0111138,  Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy,  congenital generalised lipodystrophy type 4,  generalised congenital lipodystrophy type 4 ...

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.