DISEASES

Disease-gene associations mined from literature

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Human genes for platelet-type bleeding disorder 12

Platelet-type bleeding disorder 12 [DOID:0111058]

A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.

Synonyms:  platelet-type bleeding disorder 12,  DOID:0111058,  platelettype bleeding disorder 12,  BDPLT12,  PGHS1 deficiency ...

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.