DISEASES

Disease-gene associations mined from literature

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Human genes for cystinosis

Cystinosis [DOID:1064]

A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.

Synonyms:  cystinosis,  cystinosises,  DOID:1064,  cystine storage disease,  cystine storage disorder ...

Linkouts:  OMIM #1 #2 #3

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.