DISEASES

Disease-gene associations mined from literature

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Human genes for hypertrophic cardiomyopathy 4

Hypertrophic cardiomyopathy 4 [DOID:0110310]

A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.

Synonyms:  hypertrophic cardiomyopathy 4,  DOID:0110310,  cardiomyopathy, familial hypertrophic, 4,  CMH4,  4 cardiomyopathy, familial hypertrophic ...

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.