DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked chondrodysplasia punctata 2

X-linked chondrodysplasia punctata 2 [DOID:0080352]

A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.

Synonyms:  X-linked chondrodysplasia punctata 2,  DOID:0080352,  Xlinked chondrodysplasia punctata 2,  Conradi-Hunermann Syndrome,  Happle syndrome ...

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.