DISEASES

Disease-gene associations mined from literature

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Human genes for ichthyosis follicularis-alopecia-photophobia syndrome 1

Ichthyosis follicularis-alopecia-photophobia syndrome 1 [DOID:0111821]

A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12.

Synonyms:  ichthyosis follicularis-alopecia-photophobia syndrome 1,  DOID:0111821,  ichthyosis follicularisalopeciaphotophobia syndrome 1,  ichthyosis follicularis-atrichia-photophobia syndrome 1,  IFAP syndrome 1 ...

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.