DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked recessive hypophosphatemic rickets

X-linked recessive hypophosphatemic rickets [DOID:0080353]

A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22.

Synonyms:  X-linked recessive hypophosphatemic rickets,  DOID:0080353,  Xlinked recessive hypophosphatemic rickets,  X-linked recessive hypophosphatemic ricketses

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.