DISEASES

Disease-gene associations mined from literature

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Human genes for Ehlers-Danlos syndrome spondylodysplastic type 3

Ehlers-Danlos syndrome spondylodysplastic type 3 [DOID:0080739]

An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features.

Synonyms:  Ehlers-Danlos syndrome spondylodysplastic type 3,  DOID:0080739,  EhlersDanlos syndrome spondylodysplastic type 3

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.