DISEASES - autosomal recessive nonsyndromic deafness 67

Human genes for autosomal recessive nonsyndromic deafness 67

Autosomal recessive nonsyndromic deafness 67 [DOID:0110518]

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21.

Synonyms: autosomal recessive nonsyndromic deafness 67, DOID:0110518, autosomal recessive deafness 67, DFNB67

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.