DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for cerebral cavernous malformation 1

Cerebral cavernous malformation 1 [DOID:0080491]

A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21.

Synonyms:  cerebral cavernous malformation 1,  DOID:0080491

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.