DISEASES

Disease-gene associations mined from literature

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Human genes for Johanson-Blizzard syndrome

Johanson-Blizzard syndrome [DOID:14694]

A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner.

Synonyms:  Johanson-Blizzard syndrome,  DOID:14694,  JohansonBlizzard syndrome,  Johanson-Blizzard disease,  Johanson-Blizzard disorder ...

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.