DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked deafness 5

X-linked deafness 5 [DOID:0111741]

A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in AIFM1 on chromosome Xq26.1.

Synonyms:  X-linked deafness 5,  DOID:0111741,  Xlinked deafness 5,  AUNX1,  DFNX5 ...

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.