DISEASES

Disease-gene associations mined from literature

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Human genes for tyrosinemia type II

Tyrosinemia type II [DOID:0050725]

A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels.

Synonyms:  tyrosinemia type II,  DOID:0050725,  tyrosinemia type IIs,  Oculocutaneous tyrosinemia,  Richner-Hanhart syndrome ...

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.