DISEASES

Disease-gene associations mined from literature

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Human genes for heparin cofactor II deficiency

Heparin cofactor II deficiency [DOID:0111901]

A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in HCF2 on chromosome 22q11.21.

Synonyms:  heparin cofactor II deficiency,  DOID:0111901,  heparin cofactor II deficiencies,  HCF 2 deficiency,  HCF II 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.