DISEASES

Disease-gene associations mined from literature

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Human genes for lissencephaly 7 with cerebellar hypoplasia

Lissencephaly 7 with cerebellar hypoplasia [DOID:0112231]

A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in CDK5 on chromosome 7q36.1.

Synonyms:  lissencephaly 7 with cerebellar hypoplasia,  DOID:0112231,  LIS7

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.