DISEASES

Disease-gene associations mined from literature

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Human genes for distal arthrogryposis type 3

Distal arthrogryposis type 3 [DOID:0111607]

A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in PIEZO2 on chromosome 18p11.22-p11.21.

Synonyms:  distal arthrogryposis type 3,  DOID:0111607,  camptodactyly-cleft palate-clubfoot syndrome,  DA3,  distal arthrogryposis multiplex congenita type IIA ...

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.