DISEASES

Disease-gene associations mined from literature

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Human genes for Miller-Dieker lissencephaly syndrome

Miller-Dieker lissencephaly syndrome [DOID:0060469]

A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene.

Synonyms:  Miller-Dieker lissencephaly syndrome,  DOID:0060469,  MillerDieker lissencephaly syndrome,  Miller-Dieker lissencephaly disease,  Miller-Dieker lissencephaly disorder ...

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.