DISEASES

Disease-gene associations mined from literature

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Human genes for encephalopathy due to defective mitochondrial and peroxisomal fission 1

Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [DOID:0070347]

A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood.

Synonyms:  encephalopathy due to defective mitochondrial and peroxisomal fission 1,  DOID:0070347

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.