DISEASES

Disease-gene associations mined from literature

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Human genes for syndromic microphthalmia 10

Syndromic microphthalmia 10 [DOID:0111812]

A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability.

Synonyms:  syndromic microphthalmia 10,  DOID:0111812,  MCOPS10,  microphthalmia-brain atrophy syndrome,  MOBA ...

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.