DISEASES

Disease-gene associations mined from literature

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Human genes for transthyretin amyloidosis

Transthyretin amyloidosis [DOID:0050638]

An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene.

Synonyms:  transthyretin amyloidosis,  Amyloidosis, Hereditary, Transthyretin-Related,  DOID:0050638,  transthyretin amyloidosises,  Amyloidosis Hereditary TransthyretinRelated ...

Linkouts:  OMIM

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.