DISEASES - autosomal recessive congenital ichthyosis 1

Human genes for autosomal recessive congenital ichthyosis 1

Autosomal recessive congenital ichthyosis 1 [DOID:0060656]

An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.

Synonyms: autosomal recessive congenital ichthyosis 1, DOID:0060656, ARCI1, bathing suit ichthyosis, bathing suit ichthyosises

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.