DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal recessive nonsyndromic deafness 49

Autosomal recessive nonsyndromic deafness 49 [DOID:0110506]

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13.

Synonyms:  autosomal recessive nonsyndromic deafness 49,  DOID:0110506,  autosomal recessive deafness 49,  DFNB49

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.