DISEASES

Disease-gene associations mined from literature

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Human genes for Chediak-Higashi syndrome

Chediak-Higashi syndrome [DOID:2935]

A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.

Synonyms:  Chediak-Higashi syndrome,  ChediakHigashi syndrome,  Chediak-Higashi disease,  Chediak-Higashi disorder,  Chediak-Higashi syndromes ...

Linkouts:  OMIM

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.