DISEASES

Disease-gene associations mined from literature

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Human genes for asphyxiating thoracic dystrophy 2

Asphyxiating thoracic dystrophy 2 [DOID:0110086]

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25.

Synonyms:  asphyxiating thoracic dystrophy 2,  DOID:0110086,  ATD2,  short-rib thoracic dysplasia 2 with or without polydactyly,  SRTD2 ...

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.