DISEASES

Disease-gene associations mined from literature

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Human genes for Glanzmann's thrombasthenia

Glanzmann's thrombasthenia [DOID:2219]

A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.

Synonyms:  Glanzmann's thrombasthenia,  DOID:2219,  Glanzmanns thrombasthenia,  BDPLT2,  deficiency of glycoprotein complex IIb-IIIa ...

Linkouts:  OMIM #1 #2

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.