DISEASES

Disease-gene associations mined from literature

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Human genes for brittle cornea syndrome 1

Brittle cornea syndrome 1 [DOID:14775]

An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24.

Synonyms:  brittle cornea syndrome 1,  DOID:14775,  type VIB Ehlers-Danlos syndrome,  type VIB EhlersDanlos syndrome,  type VIB Ehlers-Danlos disease ...

Linkouts:  OMIM #1 #2 #3

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.