DISEASES

Disease-gene associations mined from literature

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Human genes for progressive familial heart block type IA

Progressive familial heart block type IA [DOID:0111074]

A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21.

Synonyms:  progressive familial heart block type IA,  DOID:0111074,  progressive hereditary heart block type IA,  progressive familial heart block type IAs,  PFHB1A

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.