DISEASES

Disease-gene associations mined from literature

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Literature associating COL17A1 and Bloch-Sulzberger syndrome

COL17A1 [ENSP00000340937]

180 kDa bullous pemphigoid antigen 2; May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane; Collagens

Synonyms:  COL17A1,  COL17A1p,  hCOL17A1,  A2A2Y8,  COL17A1-001 ...

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.