DISEASES

Disease-gene associations mined from literature

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Human genes for split hand-foot malformation 1 with sensorineural hearing loss

Split hand-foot malformation 1 with sensorineural hearing loss [DOID:0090024]

A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21.

Synonyms:  split hand-foot malformation 1 with sensorineural hearing loss,  DOID:0090024,  split handfoot malformation 1 with sensorineural hearing loss,  congenital deafness with split hands and feet,  SHFM1D ...

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.