DISEASES

Disease-gene associations mined from literature

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Human genes for muscular dystrophy-dystroglycanopathy type B1

Muscular dystrophy-dystroglycanopathy type B1 [DOID:0050588]

A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.

Synonyms:  muscular dystrophy-dystroglycanopathy type B1,  DOID:0050588,  muscular dystrophydystroglycanopathy type B1,  CMD due to dystroglycanopathy,  CMD due to dystroglycanopathies

Linkouts:  OMIM #1 #2 #3 #4 #5 #6 #7 #8

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.