DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal recessive cutis laxa type IC

Autosomal recessive cutis laxa type IC [DOID:0070139]

A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.

Synonyms:  autosomal recessive cutis laxa type IC,  autosomal recessive cutis laxa type ICs,  DOID:0070139,  ARCL1C,  autosomal recessive cutis laxa type 1C

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.