DISEASES

Disease-gene associations mined from literature

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Human genes for Leber congenital amaurosis with early-onset deafness

Leber congenital amaurosis with early-onset deafness [DOID:0112240]

A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in TUBB4B on chromosome 9q34.3.

Synonyms:  Leber congenital amaurosis with early-onset deafness,  DOID:0112240,  Leber congenital amaurosis with earlyonset deafness,  Leber congenital amaurosis with early-onset deafnesses,  LCAEOD ...

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.