DISEASES

Disease-gene associations mined from literature

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Human genes for Bernard-Soulier syndrome type A2

Bernard-Soulier syndrome type A2 [DOID:0111059]

A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.

Synonyms:  Bernard-Soulier syndrome type A2,  BernardSoulier syndrome type A2,  DOID:0111059,  BSSA2

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.