DISEASES

Disease-gene associations mined from literature

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Human genes for hereditary sensory and autonomic neuropathy type 2A

Hereditary sensory and autonomic neuropathy type 2A [DOID:0070155]

A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13.

Synonyms:  hereditary sensory and autonomic neuropathy type 2A,  DOID:0070155,  familial sensory and autonomic neuropathy type 2A,  hereditary sensory and autonomic neuropathy type IIA,  HSAN2A ...

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.