DISEASES

Disease-gene associations mined from literature

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Human genes for asphyxiating thoracic dystrophy 4

Asphyxiating thoracic dystrophy 4 [DOID:0110088]

An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.

Synonyms:  asphyxiating thoracic dystrophy 4,  DOID:0110088,  ATD4,  SRTD4,  short-rib thoracic dysplasia 4 with or without polydactyly ...

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.