DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked thrombophilia due to factor IX defect

X-linked thrombophilia due to factor IX defect [DOID:0111899]

A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1.

Synonyms:  X-linked thrombophilia due to factor IX defect,  DOID:0111899,  Xlinked thrombophilia due to factor IX defect,  X-linked thrombophilia due to factor IX defects,  THPH8

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.