DISEASES

Disease-gene associations mined from literature

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Human genes for Loeys-Dietz syndrome 3

Loeys-Dietz syndrome 3 [DOID:0070237]

A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q.

Synonyms:  Loeys-Dietz syndrome 3,  DOID:0070237,  LoeysDietz syndrome 3,  aneurysms-osteoarthritis syndrome,  LDS1C ...

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.