DISEASES

Disease-gene associations mined from literature

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Human genes for congenital muscular dystrophy-dystroglycanopathy type A6

Congenital muscular dystrophy-dystroglycanopathy type A6 [DOID:0111242]

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.

Synonyms:  congenital muscular dystrophy-dystroglycanopathy type A6,  congenital muscular dystrophydystroglycanopathy type A6,  DOID:0111242,  congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6,  MDDGA6 ...

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.