DISEASES

Disease-gene associations mined from literature

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Human genes for lissencephaly 8

Lissencephaly 8 [DOID:0112233]

A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in TMTC3 on chromosome 12q21.32.

Synonyms:  lissencephaly 8,  DOID:0112233,  LIS8

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.