DISEASES

Disease-gene associations mined from literature

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Human genes for syndromic microphthalmia 8

Syndromic microphthalmia 8 [DOID:0111803]

A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21.

Synonyms:  syndromic microphthalmia 8,  DOID:0111803,  MCOPS8,  microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome,  MMEP syndrome ...

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.