DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal recessive cutis laxa type IIB

Autosomal recessive cutis laxa type IIB [DOID:0070137]

A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.

Synonyms:  autosomal recessive cutis laxa type IIB,  autosomal recessive cutis laxa type IIBs,  DOID:0070137,  ARCL2B,  ARCL2, progeroid type ...

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.