DISEASES

Disease-gene associations mined from literature

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Human genes for achondrogenesis type IB

Achondrogenesis type IB [DOID:0080055]

An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.

Synonyms:  achondrogenesis type IB,  achondrogenesis type IBs,  DOID:0080055,  achondrogenesis Fraccaro type,  achondrogenesis Fraccaro types

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.