DISEASES

Disease-gene associations mined from literature

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Human genes for congenital muscular dystrophy-dystroglycanopathy type A12

Congenital muscular dystrophy-dystroglycanopathy type A12 [DOID:0111235]

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.

Synonyms:  congenital muscular dystrophy-dystroglycanopathy type A12,  DOID:0111235,  congenital muscular dystrophydystroglycanopathy type A12,  MDDGA12,  Walker-Warburg syndrome or muscle-eye-brain disease POMK-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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.