DISEASES

Disease-gene associations mined from literature

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Human genes for syndromic microphthalmia 5

Syndromic microphthalmia 5 [DOID:0111806]

A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in OTX2 on chromosome 14q22.3.

Synonyms:  syndromic microphthalmia 5,  DOID:0111806,  MCOPS5,  syndromic microphthalmia/anophthalmia due to OTX2 mutation,  syndromic microphthalmia type 5

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.