DISEASES

Disease-gene associations mined from literature

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Human genes for complex cortical dysplasia with other brain malformations 2

Complex cortical dysplasia with other brain malformations 2 [DOID:0090133]

A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23.

Synonyms:  complex cortical dysplasia with other brain malformations 2,  DOID:0090133,  CDCBM2

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.