DISEASES

Disease-gene associations mined from literature

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Human genes for rhizomelic chondrodysplasia punctata type 5

Rhizomelic chondrodysplasia punctata type 5 [DOID:0110854]

A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.

Synonyms:  rhizomelic chondrodysplasia punctata type 5,  DOID:0110854,  Rcdp5

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.