DISEASES

Disease-gene associations mined from literature

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Literature associating COL4A3 and Fuchs' endothelial dystrophy

COL4A3 [ENSP00000379823]

Collagen, type IV, alpha 3 (Goodpasture antigen); Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen; Collagens

Synonyms:  COL4A3,  COL4A3p,  hCOL4A3,  A9QVI3,  H7BXM4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM

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.