DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for epithelial-stromal TGFBI dystrophy

Epithelial-stromal TGFBI dystrophy [DOID:0060441]

A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q.

Synonyms:  epithelial-stromal TGFBI dystrophy,  DOID:0060441,  epithelialstromal TGFBI dystrophy,  epithelial-stromal TGFBI dystrophies

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.