DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked chondrodysplasia punctata 1

X-linked chondrodysplasia punctata 1 [DOID:0060292]

A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22.

Synonyms:  X-linked chondrodysplasia punctata 1,  DOID:0060292,  Xlinked chondrodysplasia punctata 1,  chondrodystrophia calcificans congenita,  chondrodystrophia calcificans congenitas

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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.