DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for X-linked properdin deficiency

X-linked properdin deficiency [DOID:0111768]

A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23.

Synonyms:  X-linked properdin deficiency,  DOID:0111768,  Xlinked properdin deficiency,  X-linked properdin deficiencies,  CFPD ...

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.