DISEASES

Disease-gene associations mined from literature

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Human genes for syndromic microphthalmia 1

Syndromic microphthalmia 1 [DOID:0111799]

A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in NAA10 on chromosome Xq28.

Synonyms:  syndromic microphthalmia 1,  DOID:0111799,  Lenz dysplasia,  Lenz microphthalmia,  Lenz type microphthalmia ...

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.