DISEASES

Disease-gene associations mined from literature

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Human genes for ectodermal dysplasia 10B

Ectodermal dysplasia 10B [DOID:0111665]

A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in EDAR on chromosome 2q13.

Synonyms:  ectodermal dysplasia 10B,  DOID:0111665,  ECTD10B,  ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive,  autosomal recessive ectodermal dysplasia 10B, hypohidrotic/hair/nail type ...

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.