DISEASES

Disease-gene associations mined from literature

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Human genes for hereditary sensory and autonomic neuropathy type 6

Hereditary sensory and autonomic neuropathy type 6 [DOID:0070151]

A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12.

Synonyms:  hereditary sensory and autonomic neuropathy type 6,  DOID:0070151,  familial sensory and autonomic neuropathy type 6,  hereditary sensory and autonomic neuropathy type VI,  HSAN6 ...

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.