DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal recessive cutis laxa type IID

Autosomal recessive cutis laxa type IID [DOID:0070129]

An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.

Synonyms:  autosomal recessive cutis laxa type IID,  autosomal recessive cutis laxa type IIDs,  DOID:0070129,  ARCL2D

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.