DISEASES

Disease-gene associations mined from literature

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Human genes for Schimke immuno-osseous dysplasia

Schimke immuno-osseous dysplasia [DOID:0060490]

A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.

Synonyms:  Schimke immuno-osseous dysplasia,  DOID:0060490,  Schimke immunoosseous dysplasia,  Schimke immuno-osseous dysplasias,  immunoosseous dysplasia Schimke 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.