DISEASES

Disease-gene associations mined from literature

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Human genes for isolated microphthalmia 6

Isolated microphthalmia 6 [DOID:0060835]

An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.

Synonyms:  isolated microphthalmia 6,  DOID:0060835,  MCOP6,  posterior nonsyndromic microphthalmia,  posterior nonsyndromic microphthalmias

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.