DISEASES

Disease-gene associations mined from literature

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Human genes for short-rib thoracic dysplasia 9 with or without polydactyly

Short-rib thoracic dysplasia 9 with or without polydactyly [DOID:0110097]

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.

Synonyms:  short-rib thoracic dysplasia 9 with or without polydactyly,  DOID:0110097,  shortrib thoracic dysplasia 9 with or without polydactyly,  renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia,  SRTD9 ...

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.