DISEASES

Disease-gene associations mined from literature

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Literature associating VSX1 and brittle cornea syndrome 1

VSX1 [ENSP00000365899]

Visual system homeobox 1; Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster . May regulate the activity of the LCR and the cone opsin genes at earlier stages of development . Dispensable in early retinal development (By similarity); Belongs to the paired homeobox family.

Synonyms:  VSX1,  VSX1p,  hVSX1,  Q9NZR4,  Q9NZR4p ...

Linkouts:  STRING  Pharos  UniProt  OMIM

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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.