DISEASES

Disease-gene associations mined from literature

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Human genes for hypertrophic cardiomyopathy 17

Hypertrophic cardiomyopathy 17 [DOID:0110323]

A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12.

Synonyms:  hypertrophic cardiomyopathy 17,  DOID:0110323,  cardiomyopathy familial hypertrophic 17,  CMH17,  cardiomyopathy hereditary hypertrophic 17

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.