DISEASES

Disease-gene associations mined from literature

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Human genes for patterned macular dystrophy 3

Patterned macular dystrophy 3 [DOID:0060865]

A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21.

Synonyms:  patterned macular dystrophy 3,  DOID:0060865,  Martinique crinkled retinal pigment epitheliopathy,  MDPT3,  Martinique crinkled retinal pigment epitheliopathies

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.