DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal recessive cutis laxa type IA

Autosomal recessive cutis laxa type IA [DOID:0070135]

An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.

Synonyms:  autosomal recessive cutis laxa type IA,  autosomal recessive cutis laxa type IAs,  DOID:0070135,  ARCL1A

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.