DISEASES

Disease-gene associations mined from literature

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Human genes for distal arthrogryposis type 2A

Distal arthrogryposis type 2A [DOID:0111605]

A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in MYH3 on chromosome 17p13.1.

Synonyms:  distal arthrogryposis type 2A,  DOID:0111605,  DA2A,  distal arthrogryposis type 2A (Freeman-Sheldon),  distal arthrogryposis type 2A FreemanSheldon

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.