DISEASES

Disease-gene associations mined from literature

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Human genes for familial isolated trichomegaly

Familial isolated trichomegaly [DOID:0111566]

An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compund heterozygous mutation in FGF5 on chromosome 4q21.21.

Synonyms:  familial isolated trichomegaly,  DOID:0111566,  hereditary isolated trichomegaly,  familial isolated trichomegalies,  long eyelashes ...

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.