DISEASES

Disease-gene associations mined from literature

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Human genes for holocarboxylase synthetase deficiency

Holocarboxylase synthetase deficiency [DOID:859]

A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.

Synonyms:  holocarboxylase synthetase deficiency,  DOID:859,  holocarboxylase synthetase deficiencies,  Biotin-(propionyl-CoA-carboxylase) ligase deficiency,  Multiple carboxylase deficiency - neonatal onset ...

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.