DISEASES

Disease-gene associations mined from literature

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Human genes for muscular dystrophy-dystroglycanopathy type B5

Muscular dystrophy-dystroglycanopathy type B5 [DOID:0110635]

A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.

Synonyms:  muscular dystrophy-dystroglycanopathy type B5,  DOID:0110635,  muscular dystrophydystroglycanopathy type B5,  congenital muscular dystrophy 1C,  FKRP-related congenital muscular dystrophy ...

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.