DISEASES

Disease-gene associations mined from literature

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Human genes for lissencephaly 1

Lissencephaly 1 [DOID:0112237]

A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in PAFAH1B1 on chromosome 17p13.3.

Synonyms:  lissencephaly 1,  DOID:0112237,  LIS1,  PAFAH1B1-related lissencephaly,  PAFAH1B1related lissencephaly

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.