DISEASES

Disease-gene associations mined from literature

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Human genes for congenital muscular dystrophy 1B

Congenital muscular dystrophy 1B [DOID:0110634]

A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42.

Synonyms:  congenital muscular dystrophy 1B,  DOID:0110634,  CMD1B,  congenital muscular dystrophy type 1B,  MDC1B

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.