DISEASES

Disease-gene associations mined from literature

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Human genes for achromatopsia

Achromatopsia [DOID:13911]

A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.

Synonyms:  achromatopsia,  achromatopsias,  DOID:13911,  ACHM,  Monochromatism ...

Linkouts:  OMIM #1 #2 #3 #4 #5

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.