DISEASES

Disease-gene associations mined from literature

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Human genes for Kohlschutter-Tonz syndrome

Kohlschutter-Tonz syndrome [DOID:0111668]

A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3.

Synonyms:  Kohlschutter-Tonz syndrome,  DOID:0111668,  KohlschutterTonz syndrome,  Kohlschutter-Tonz disease,  Kohlschutter-Tonz 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.