DISEASES

Disease-gene associations mined from literature

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Human genes for thrombophilia due to thrombin defect

Thrombophilia due to thrombin defect [DOID:0111907]

A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.

Synonyms:  thrombophilia due to thrombin defect,  DOID:0111907,  thrombophilia due to thrombin defects,  prothrombin-related thrombophilia,  THPH1 ...

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.