DISEASES

Disease-gene associations mined from literature

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Human genes for alkaptonuria

Alkaptonuria [DOID:9270]

An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.

Synonyms:  alkaptonuria,  alkaptonurias,  DOID:9270,  alcaptonuria,  Homogentisate 1,2-dioxygenase deficiency ...

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.