DISEASES

Disease-gene associations mined from literature

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Human genes for Schopf-Schulz-Passarge syndrome

Schopf-Schulz-Passarge syndrome [DOID:0111647]

An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in WNT10A on chromosome 2q35.

Synonyms:  Schopf-Schulz-Passarge syndrome,  DOID:0111647,  SchopfSchulzPassarge syndrome,  Schopf-Schulz-Passarge disease,  Schopf-Schulz-Passarge disorder ...

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.