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, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity.

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.