DISEASES

Disease-gene associations mined from literature

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Human genes for Ehlers-Danlos syndrome classic type 1

Ehlers-Danlos syndrome classic type 1 [DOID:14720]

An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.

Synonyms:  Ehlers-Danlos syndrome classic type 1,  DOID:14720,  EhlersDanlos syndrome classic type 1,  Ehlers-Danlos syndrome, type 1,  type I Ehlers-Danlos syndrome ...

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.