DISEASES

Disease-gene associations mined from literature

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Human genes for fatal infantile hypertonic myofibrillar myopathy

Fatal infantile hypertonic myofibrillar myopathy [DOID:0080309]

A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23.

Synonyms:  fatal infantile hypertonic myofibrillar myopathy,  DOID:0080309,  fatal infantile hypertonic myofibrillar myopathies

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.