DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked deafness 1

X-linked deafness 1 [DOID:0111739]

An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in PRPS1 on chromosome Xq22.3.

Synonyms:  X-linked deafness 1,  DOID:0111739,  Xlinked deafness 1,  DFN2,  DFNX1 ...

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.